{"Name":"Hypereosinophilic syndrome","DiseaseID__c":"GARD:0002804","id":2804,"encodedName":"hypereosinophilic-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Hypereosinophilic syndrome","Xref_IDs__c":"1156250009; 393573009; 419455006; C1540912; C27038; D017681; D72.11; DOID:999; MEDGEN:280990; MONDO:0015691; ORPHA:168956","USA_Estimate__c":"50,000","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":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0015691","Disease_Description__c":"Hypereosinophilic syndrome (HES) constitutes a rare and heterogeneous group of disorders, defined as persistent and marked blood eosinophilia and/or tissue eosinophilia associated with a wide range of clinical manifestations reflecting eosinophil-induced tissue/organ damage.","GARD_Name__c":"Hypereosinophilic syndrome","GARD_Synonym__c":"eosinophilic leukocytosis; hes; hes - hypereosinophilic syndrome; hypereosinophilic disease; hypereosinophilic disorder","Curated_Disease_Description_Source__c":"GARD:0002804","Curated_Disease_Description__c":"PDGFRA-associated chronic eosinophilic leukemia is a form of blood cell cancer characterized by an elevated number of cells called eosinophils in the blood. These cells help fight infections by certain parasites and are involved in the inflammation associated with allergic reactions. However, these circumstances do not account for the increased number of eosinophils in PDGFRA-associated chronic eosinophilic leukemia. Another characteristic feature of PDGFRA-associated chronic eosinophilic leukemia is organ damage caused by the excess eosinophils. Eosinophils release substances to aid in the immune response, but the release of excessive amounts of these substances causes damage to one or more organs, most commonly the heart, skin, lungs, or nervous system. Eosinophil-associated organ damage can lead to a heart condition known as eosinophilic endomyocardial disease, skin rashes, coughing, difficulty breathing, swelling (edema) in the lower limbs, confusion, changes in behavior, or impaired movement or sensations. People with PDGFRA-associated chronic eosinophilic leukemia can also have an enlarged spleen (splenomegaly) and elevated levels of certain chemicals called vitamin B12 and tryptase in the blood. Some people with PDGFRA-associated chronic eosinophilic leukemia have an increased number of other types of white blood cells, such as neutrophils or mast cells. Occasionally, people with PDGFRA-associated chronic eosinophilic leukemia develop other blood cell cancers, such as acute myeloid leukemia or B-cell or T-cell acute lymphoblastic leukemia or lymphoblastic lymphoma. PDGFRA-associated chronic eosinophilic leukemia is often grouped with a related condition called hypereosinophilic syndrome. These two conditions have very similar signs and symptoms; however, the cause of hypereosinophilic syndrome is unknown.","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:168956","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0015691","ORPHANET_ID__c":"ORPHA:168956","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndromes hipereosinofílicos","Spanish_Description_Source__c":"ORPHA:168956","Spanish_Description__c":"Se denomina síndrome hipereosinofílico (SHE) a un conjunto de trastornos poco frecuentes y heterogéneos, caracterizados por intensa y persistente eosinofilia en sangre periférica y/o presencia de abundantes eosinófilos en los tejidos acompañada de una amplia gama de manifestaciones clínicas debidas a la lesión orgánica producida por el exceso de eosinófilos en los tejidos.","Spanish_Disease_Name__c":"síndromes hipereosinofílicos","Spanish_GARD_Synonym__c":null,"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":"PDGFRA-associated chronic eosinophilic leukemia is a form of blood cell cancer characterized by an elevated number of cells called eosinophils in the blood. These cells help fight infections by certain parasites and are involved in the inflammation associated with allergic reactions. However, these circumstances do not account for the increased number of eosinophils in PDGFRA-associated chronic eosinophilic leukemia. Another characteristic feature of PDGFRA-associated chronic eosinophilic leukemia is organ damage caused by the excess eosinophils. Eosinophils release substances to aid in the immune response, but the release of excessive amounts of these substances causes damage to one or more organs, most commonly the heart, skin, lungs, or nervous system. Eosinophil-associated organ damage can lead to a heart condition known as eosinophilic endomyocardial disease, skin rashes, coughing, difficulty breathing, swelling (edema) in the lower limbs, confusion, changes in behavior, or impaired movement or sensations. People with PDGFRA-associated chronic eosinophilic leukemia can also have an enlarged spleen (splenomegaly) and elevated levels of certain chemicals called vitamin B12 and tryptase in the blood. Some people with PDGFRA-associated chronic eosinophilic leukemia have an increased number of other types of white blood cells, such as neutrophils or mast cells. Occasionally, people with PDGFRA-associated chronic eosinophilic leukemia develop other blood cell cancers, such as acute myeloid leukemia or B-cell or T-cell acute lymphoblastic leukemia or lymphoblastic lymphoma. PDGFRA-associated chronic eosinophilic leukemia is often grouped with a related condition called hypereosinophilic syndrome. These two conditions have very similar signs and symptoms; however, the cause of hypereosinophilic syndrome is unknown.","Curated_Disease_Description_Source__c":"GARD:0002804","GARD_Synonym__c":"eosinophilic leukocytosis; hes; hes - hypereosinophilic syndrome; hypereosinophilic disease; hypereosinophilic disorder","Name":"Hypereosinophilic syndrome","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"HealthTree Foundation","Website__c":"https://healthtree.org/"},{"Account_Name__c":"American Partnership For Eosinophilic Disorders","Website__c":"https://apfed.org/"},{"Account_Name__c":"International Eosinophil Society","Website__c":"http://www.eosinophil-society.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":"Cardiology","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":"Cardiomyopathy","Tag_Category__c":"Account","curated_tag_name":"Cardiomyopathy"},{"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:168956"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/168956","Source__c":"C1540912; MONDO:0015691; ORPHA:168956","Xref__c":"ORPHA:168956"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=280990","Source__c":"C1540912","Xref__c":"MEDGEN:280990"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=419455006","Source__c":"MONDO:0015691","Xref__c":"419455006"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C017681","Source__c":"MONDO:0015691","Xref__c":"D017681"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C27038","Source__c":"MONDO:0015691","Xref__c":"C27038"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1540912","Source__c":"C1540912","Xref__c":"C1540912"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A999","Source__c":"MONDO:0015691","Xref__c":"DOID:999"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/D72.11","Source__c":"MONDO:0015691","Xref__c":"D72.11"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=393573009","Source__c":"C1540912","Xref__c":"393573009"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1156250009","Source__c":"C1540912","Xref__c":"1156250009"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015691","Source__c":"GARD:0002804","Xref__c":"MONDO:0015691"}],"tags":{"Specialist":["Cancer - Oncologist","Cardiology","Hematology","Pediatrics"],"Disease Category":["Cancer","Hematology"],"Account":["Cardiomyopathy","Myeloid hemopathy"]},"synonyms":["eosinophilic leukocytosis"," hes"," hes - hypereosinophilic syndrome"," hypereosinophilic disease"," hypereosinophilic disorder"]}