{"Name":"Mastocytosis","DiseaseID__c":"GARD:0006987","id":6987,"encodedName":"mastocytosis","IsDeleted":false,"Disease_Name_Full__c":"Mastocytosis","Xref_IDs__c":"127581004; C0024899; C84269; D008415; DOID:350; HP:0100495; MEDGEN:9902; MONDO:0007950; ORPHA:98292","USA_Estimate__c":"50,000","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":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0007950","Disease_Description__c":"A clonal myeloproliferative neoplasm characterized by the proliferation and accumulation of neoplastic mast cells in one or multiple organs or organ systems. It is a heterogeneous group of neoplasms, ranging from cutaneous proliferations which may regress spontaneously, to aggressive neoplasms associated with organ failure and short survival.","GARD_Name__c":"Mastocytosis","GARD_Synonym__c":"mast cell disease; mast cell hyperplasia","Curated_Disease_Description_Source__c":"GARD:0006987","Curated_Disease_Description__c":"Mastocytosis occurs when too many mast cells accumulate in the skin and/or internal organs such as the liver, spleen, bone marrow, and small intestines. Mast cells are a type of white blood cell in the immune system. Mast cells are responsible for protecting the body from infection and releasing chemicals to create inflammatory responses. The signs and symptoms of Mastocytosis vary based on which parts of the body are affected. There are two main forms of Mastocytosis. Cutaneous Mastocytosis only affects the skin and is more common in children. Systemic Mastocytosis affects more than one part of the body and is more common in adults. Mastocytosis is usually caused by changes (known as variationss) in the KIT gene. Most cases are caused by somatic genetic changes, meaning they only occur in certain parts of the body and are not inherited or passed on to the next generation. However, mastocystosis can rarely affect more than one person in a family. Mastocysotis may be suspected when a doctor sees a person has signs and symptoms of the disease. Diagnosis may be confirmed with a skin biopsy or bone marrow biopsy.","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:98292","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0007950","ORPHANET_ID__c":"ORPHA:98292","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Mastocitosis","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"mastocitosis","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:250908","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":"Mastocytosis occurs when too many mast cells accumulate in the skin and/or internal organs such as the liver, spleen, bone marrow, and small intestines. Mast cells are a type of white blood cell in the immune system. Mast cells are responsible for protecting the body from infection and releasing chemicals to create inflammatory responses. The signs and symptoms of Mastocytosis vary based on which parts of the body are affected. There are two main forms of Mastocytosis. Cutaneous Mastocytosis only affects the skin and is more common in children. Systemic Mastocytosis affects more than one part of the body and is more common in adults. Mastocytosis is usually caused by changes (known as variationss) in the KIT gene. Most cases are caused by somatic genetic changes, meaning they only occur in certain parts of the body and are not inherited or passed on to the next generation. However, mastocystosis can rarely affect more than one person in a family. Mastocysotis may be suspected when a doctor sees a person has signs and symptoms of the disease. Diagnosis may be confirmed with a skin biopsy or bone marrow biopsy.","Curated_Disease_Description_Source__c":"GARD:0006987","GARD_Synonym__c":"mast cell disease; mast cell hyperplasia","Name":"Mastocytosis","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Allergy & Asthma Network Mothers of Asthmatics","Website__c":"https://allergyasthmanetwork.org/"},{"Account_Name__c":"Ben's Friends","Website__c":"https://www.bensfriends.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":"Asociación Española de Mastocitosis y Enfermedades Relacionadas"},{"Account_Name__c":"The Mast Cell Disease Society","Website__c":"https://tmsforacure.org/"},{"Account_Name__c":"UK Mastocytosis Support Group","Website__c":"https://ukmasto.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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:98292"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0024899"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/98292","Source__c":"C0024899; MONDO:0007950; ORPHA:98292","Xref__c":"ORPHA:98292"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C84269","Source__c":"C0024899; MONDO:0007950","Xref__c":"C84269"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=9902","Source__c":"C0024899","Xref__c":"MEDGEN:9902"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C008415","Source__c":"C0024899; MONDO:0007950","Xref__c":"D008415"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A350","Source__c":"MONDO:0007950","Xref__c":"DOID:350"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0024899","Source__c":"C0024899","Xref__c":"C0024899"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0100495","Source__c":"C0024899","Xref__c":"HP:0100495"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007950","Source__c":"GARD:0006987","Xref__c":"MONDO:0007950"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=127581004","Source__c":"C0024899","Xref__c":"127581004"},{"URL__c":"https://tmsforacure.org/wp-content/uploads/FDA_listening_session_summary_FINAL.pdf"}],"tags":{"Specialist":["Cancer - Oncologist","Hematology","Pediatrics"],"Disease Category":["Cancer","Hematology"]},"synonyms":["mast cell disease"," mast cell hyperplasia"],"spanishId":13476,"spanishName":"mastocitosis"}