{"Name":"Multiple paragangliomas associated with polycythemia","DiseaseID__c":"GARD:0021435","id":21435,"encodedName":"multiple-paragangliomas-associated-with-polycythemia","IsDeleted":false,"Disease_Name_Full__c":"Multiple paragangliomas associated with polycythemia","Xref_IDs__c":"C5679884; MEDGEN:1812993; MONDO:0017926; ORPHA:324299","USA_Estimate__c":"1,000","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":"1 to 8,000","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":"ORPHA:324299","Disease_Description__c":"A rare, endocrine disease characterized by early onset of polycythemia, and later occuring multiple parangliomas. Clinical presentation includes hypertension, headaches, fatigue, nausea, anxiety, and high concentration of red blood cells, leading to increased risk of stroke and pulmonary thromboembolism.","GARD_Name__c":"Multiple paragangliomas associated with polycythemia","GARD_Synonym__c":"multiple paraganglioma associated with erythrocytosis; multiple paraganglioma associated with polycythemia; multiple paragangliomas associated with erythrocytosis; paraganglioma-somatostatinoma-polycythemia syndrome; paraganglioma, somatostatinoma, polycythemia syndrome","Curated_Disease_Description_Source__c":"ORPHA:324299","Curated_Disease_Description__c":"A rare, endocrine disease characterized by early onset of polycythemia, and later occuring multiple paragangliomas. Clinical presentation includes hypertension, headaches, fatigue, nausea, anxiety, and high concentration of red blood cells, leading to increased risk of stroke and pulmonary thromboembolism.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:324299","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0017926","ORPHANET_ID__c":"ORPHA:324299","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Paragangliomas múltiples asociados con policitemia","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"paragangliomas múltiples asociados con policitemia","Spanish_GARD_Synonym__c":"paragangliomas múltiples asociados con eritrocitosis; síndrome de paraganglioma-somatostatinoma-policitemia","Category_Linearization__c":"ORPHA:97978","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":"A rare, endocrine disease characterized by early onset of polycythemia, and later occuring multiple paragangliomas. Clinical presentation includes hypertension, headaches, fatigue, nausea, anxiety, and high concentration of red blood cells, leading to increased risk of stroke and pulmonary thromboembolism.","Curated_Disease_Description_Source__c":"ORPHA:324299","GARD_Synonym__c":"multiple paraganglioma associated with erythrocytosis; multiple paraganglioma associated with polycythemia; multiple paragangliomas associated with erythrocytosis; paraganglioma-somatostatinoma-polycythemia syndrome; paraganglioma, somatostatinoma, polycythemia syndrome","Name":"Multiple paragangliomas associated with polycythemia","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Pheo Para Alliance","Website__c":"https://pheopara.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":"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":"Endocrine","Tag_Category__c":"Disease Category;Specialist","category_description":"Endocrine diseases affect hormone production or how the body responds to a specific hormone(s).","curated_tag_name":"Endocrine diseases"},{"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":"Childhood","Provided_By__c":"ORPHA:324299"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/324299","Source__c":"C5679884; MONDO:0017926; ORPHA:324299","Xref__c":"ORPHA:324299"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1812993","Source__c":"C5679884","Xref__c":"MEDGEN:1812993"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5679884","Source__c":"C5679884","Xref__c":"C5679884"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017926","Source__c":"GARD:0021435","Xref__c":"MONDO:0017926"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1197217007","Source__c":"C5679884","Xref__c":"1197217007"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK621478","Source__c":"Gene Review","Xref__c":"NBK621478"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"EPAS1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/epas1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"tags":{"Specialist":["Cancer - Oncologist","Genetics","Endocrine","Hematology","Pediatrics"],"Disease Category":["Cancer","Genetics","Endocrine","Hematology"],"Cause":["Genetics"]},"synonyms":["multiple paraganglioma associated with erythrocytosis"," multiple paraganglioma associated with polycythemia"," multiple paragangliomas associated with erythrocytosis"," paraganglioma-somatostatinoma-polycythemia syndrome"," paraganglioma, somatostatinoma, polycythemia syndrome"]}