{"Name":"Essential thrombocythemia","DiseaseID__c":"GARD:0006594","id":6594,"encodedName":"essential-thrombocythemia","IsDeleted":false,"Disease_Name_Full__c":"Essential thrombocythemia","Xref_IDs__c":"109994006; 128844009; C0040028; C3407; D013920; D47.3; DOID:2224; MEDGEN:11797; MONDO:0005029; ORPHA:3318","USA_Estimate__c":"200,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"800,000 to 5,000,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":5,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0005029","Disease_Description__c":"A chronic myeloproliferative neoplasm that involves primarily the megakaryocytic lineage. It is characterized by sustained thrombocytosis in the blood, increased numbers of large, mature megakaryocytes in the bone marrow, and episodes of thrombosis and/or hemorrhage. (WHO, 2008)","GARD_Name__c":"Essential thrombocythemia","GARD_Synonym__c":"essential hemorrhagic thrombocythemia; essential thrombocytemia; essential thrombocythaemia; essential thrombocythemia (clinical disorder); essential thrombocytosis; et; hemorrhagic thrombocythemia; idiopathic hemorrhagic thrombocythemia; idiopathic thrombocythemia; primary thrombocythemia; primary thrombocytosis; suspected essential thromboythemia","Curated_Disease_Description_Source__c":"GARD:0006594","Curated_Disease_Description__c":"Essential thrombocythemia is a condition characterized by an increased number of platelets (thrombocythemia). Platelets (thrombocytes) are blood cells involved in blood clotting. While some people with this condition have no symptoms, others develop problems associated with the excess platelets. Abnormal blood clotting (thrombosis) is common in people with essential thrombocythemia and causes many signs and symptoms of this condition. Clots that block blood flow to the brain can cause strokes or temporary stroke-like episodes known as transient ischemic attacks. Thrombosis in the legs can cause leg pain, swelling, or both. In addition, clots can travel to the lungs (pulmonary embolism), blocking blood flow in the lungs and causing chest pain and difficulty breathing (dyspnea). Another problem in essential thrombocythemia is abnormal bleeding, which occurs more often in people with a very high number of platelets. Affected people may have nosebleeds, bleeding gums, or bleeding in the gastrointestinal tract. It is thought that bleeding occurs because a specific protein in the blood that helps with clotting is reduced, although why the protein is reduced is unclear. Other signs and symptoms of essential thrombocythemia include an enlarged spleen (splenomegaly); weakness; headaches; or a sensation in the skin of burning, tingling, or prickling. Some people with essential thrombocythemia have episodes of severe pain, redness, and swelling (erythromelalgia), which commonly occur in the hands and feet.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"200,000","Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:3318","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0005029","ORPHANET_ID__c":"ORPHA:3318","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Trombocitemia esencial","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"trombocitemia esencial","Spanish_GARD_Synonym__c":"et; trombocitosis esencial","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":"Essential thrombocythemia is a condition characterized by an increased number of platelets (thrombocythemia). Platelets (thrombocytes) are blood cells involved in blood clotting. While some people with this condition have no symptoms, others develop problems associated with the excess platelets. Abnormal blood clotting (thrombosis) is common in people with essential thrombocythemia and causes many signs and symptoms of this condition. Clots that block blood flow to the brain can cause strokes or temporary stroke-like episodes known as transient ischemic attacks. Thrombosis in the legs can cause leg pain, swelling, or both. In addition, clots can travel to the lungs (pulmonary embolism), blocking blood flow in the lungs and causing chest pain and difficulty breathing (dyspnea). Another problem in essential thrombocythemia is abnormal bleeding, which occurs more often in people with a very high number of platelets. Affected people may have nosebleeds, bleeding gums, or bleeding in the gastrointestinal tract. It is thought that bleeding occurs because a specific protein in the blood that helps with clotting is reduced, although why the protein is reduced is unclear. Other signs and symptoms of essential thrombocythemia include an enlarged spleen (splenomegaly); weakness; headaches; or a sensation in the skin of burning, tingling, or prickling. Some people with essential thrombocythemia have episodes of severe pain, redness, and swelling (erythromelalgia), which commonly occur in the hands and feet.","Curated_Disease_Description_Source__c":"GARD:0006594","GARD_Synonym__c":"essential hemorrhagic thrombocythemia; essential thrombocytemia; essential thrombocythaemia; essential thrombocythemia (clinical disorder); essential thrombocytosis; et; hemorrhagic thrombocythemia; idiopathic hemorrhagic thrombocythemia; idiopathic thrombocythemia; primary thrombocythemia; primary thrombocytosis; suspected essential thromboythemia","Name":"Essential thrombocythemia","Curated_USA_Estimate__c":"200,000","estimateUsa":"200,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Aplastic Anemia and MDS International Foundation","Website__c":"https://www.aamds.org"},{"Account_Name__c":"HealthTree Foundation","Website__c":"https://healthtree.org/"},{"Account_Name__c":"Blood Cancer United","Website__c":"https://bloodcancerunited.org/"},{"Account_Name__c":"Alianza Iberoamericana de Enfermedades Raras o Poco Frecuentes","Website__c":"https://aliber.org/web/"},{"Account_Name__c":"Federación Mexicana de Enfermedades Raras (FEMEXER)","Website__c":"http://www.femexer.org/"},{"Account_Name__c":"Federación Española de Enfermedades Raras","Website__c":"https://enfermedades-raras.org/"},{"Account_Name__c":"Federación Colombiana de Enfermedades Raras","Website__c":"http://www.fecoer.org"},{"Account_Name__c":"Federación Argentina de Enfermedades Poco Frecuentes","Website__c":"https://fadepof.org.ar/"},{"Account_Name__c":"Asociación Todos Unidos Enfermedades Raras Uruguay","Website__c":"https://atueru.org.uy/"},{"Account_Name__c":"The Leukemia & Lymphoma Society","Website__c":"www.lls.org"},{"Account_Name__c":"MPN Research Foundation","Website__c":"https://www.mpnresearchfoundation.org/"},{"Account_Name__c":"Friends of ET Research","Website__c":"https://fofetr.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Cancer - Oncologist","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Cancer","Tag_Category__c":"Disease Category","category_description":"Cancer is a disease in which some of the body's cells grow uncontrollably and can spread to other parts of the body.","curated_tag_name":"Cancer"},{"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":"Myeloid hemopathy","Tag_Category__c":"Account","curated_tag_name":"Blood or bone marrow disease"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:3318"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0006594","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C013920","Source__c":"C0040028; MONDO:0005029","Xref__c":"D013920"},{"URL__c":"https://www.orpha.net/en/disease/detail/3318","Source__c":"C0040028; MONDO:0005029; ORPHA:3318","Xref__c":"ORPHA:3318"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C3407","Source__c":"C0040028; MONDO:0005029","Xref__c":"C3407"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0040028","Source__c":"C0040028","Xref__c":"C0040028"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=109994006","Source__c":"C0040028; MONDO:0005029","Xref__c":"109994006"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=11797","Source__c":"C0040028","Xref__c":"MEDGEN:11797"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A2224","Source__c":"MONDO:0005029","Xref__c":"DOID:2224"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=128844009","Source__c":"C0040028","Xref__c":"128844009"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0005029","Source__c":"GARD:0006594","Xref__c":"MONDO:0005029"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/D47.3","Source__c":"MONDO:0005029","Xref__c":"D47.3"},{"URL__c":"https://medlineplus.gov/genetics/condition/essential-thrombocythemia","Source__c":"GARD:0006594","Xref__c":"https://medlineplus.gov/genetics/condition/essential-thrombocythemia"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SH2B3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"CALR","GHR_URL__c":"https://medlineplus.gov/genetics/gene/calr","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"MPL","GHR_URL__c":"https://medlineplus.gov/genetics/gene/mpl","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"JAK2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/jak2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Non-Mendelian inheritance"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:3318","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Persistent difficulty in starting or maintaining sleep, or waking up earlier than desired, despite having adequate opportunities and conditions for sleep.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100785","HPO_Synonym__c":"Difficulty staying or falling asleep; 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A bleeding diathesis may be related to vascular, platelet and coagulation defects.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001892","HPO_Synonym__c":"Bleeding diathesis; Bleeding tendency; Hemorrhagic diathesis","HPO_Name__c":"Abnormal bleeding","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3318","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An anomaly of the cerebral blood vessels.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100659","HPO_Synonym__c":"Abnormality of the cerebral blood vessels; Abnormality of the cerebral vasculature","HPO_Name__c":"Abnormal cerebral vascular morphology","Feature_System__c":"Nervous System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3318","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:3318","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003401","HPO_Synonym__c":"Paresthesias; Pins and needles feeling; Tingling","HPO_Name__c":"Paresthesia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3318","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal sensation of spinning while the body is actually stationary.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002321","HPO_Synonym__c":"Dizzy spell","HPO_Name__c":"Vertigo","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3318","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002326","HPO_Synonym__c":"Mini stroke; TIA; Transient ischemic attacks","HPO_Name__c":"Transient ischemic attack","Feature_System__c":"Nervous System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3318","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Prolongation of the time taken for a standardized skin cut of fixed depth and length to stop bleeding.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003010","HPO_Synonym__c":"Increased bleeding time; Prolonged bleeding time","HPO_Name__c":"Prolonged bleeding time","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3318","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An anomaly in platelet form, ultrastructure, or intracellular organelles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011875","HPO_Synonym__c":"Abnormal shape of platelets","HPO_Name__c":"Abnormal platelet morphology","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3318","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal increase in the number of leukocytes in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001974","HPO_Synonym__c":"Elevated white blood count; High white blood count; Increased blood leukocyte number; Leukocytosis","HPO_Name__c":"Increased total leukocyte count","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3318","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002076","HPO_Synonym__c":"Intermittent migraine headaches; Migraine; Migraine headache; Migraine headaches","HPO_Name__c":"Migraine","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3318","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An anomaly of the form or number of cells in the bone marrow.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005561","HPO_Synonym__c":"Abnormality of bone marrow cell morphology; Anomaly of the bone marrow cells","HPO_Name__c":"Abnormal bone marrow cell morphology","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3318","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Recurrent episodes of redness, burning pain, and warmth of the extremities following exposure to heat or exercise with symptoms predominantly involving the feet.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032147","HPO_Name__c":"Erythromelalgia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3318","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased megakaryocyte number, i.e., of platelet precursor cells, present in the bone marrow.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005513","HPO_Name__c":"Increased megakaryocyte count","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3318","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A transient visual disturbance that is typically caused by a circulatory, ocular or neurological underlying condition.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100576","HPO_Name__c":"Amaurosis fugax","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3318","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A subjective feeling of tiredness characterized by a lack of energy and motivation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012378","HPO_Synonym__c":"Fatigue; 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The malignant cells show minimal differentiation and are called blasts, either myeloid blasts (myeloblasts) or lymphoid blasts (lymphoblasts).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002488","HPO_Synonym__c":"Acute leukemias","HPO_Name__c":"Acute leukemia","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3318","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of platelets.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001872","HPO_Synonym__c":"Platelet abnormalities","HPO_Name__c":"Abnormality of thrombocytes","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3318","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased numbers of platelets in the peripheral blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001894","HPO_Synonym__c":"Increased number of platelets in blood; Increased platelet count","HPO_Name__c":"Thrombocytosis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3318","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:3318","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Clonal hematopoietic stem cell disorders characterized by dysplasia (ineffective production) in one or more hematopoietic cell lineages, leading to anemia and cytopenia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002863","HPO_Synonym__c":"Myelodysplastic syndrome","HPO_Name__c":"Myelodysplasia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist","Hematology","Pediatrics"],"Disease Category":["Cancer","Hematology"],"Account":["Myeloid hemopathy"]},"synonyms":["essential hemorrhagic thrombocythemia"," essential thrombocytemia"," essential thrombocythaemia"," essential thrombocythemia (clinical disorder)"," essential thrombocytosis"," et"," hemorrhagic thrombocythemia"," idiopathic hemorrhagic thrombocythemia"," idiopathic thrombocythemia"," primary thrombocythemia"," primary thrombocytosis"," suspected essential thromboythemia"],"spanishId":12007,"spanishName":"trombocitemia-esencial"}