{"Name":"Monoclonal mast cell activation syndrome","DiseaseID__c":"GARD:0012980","id":12980,"encodedName":"monoclonal-mast-cell-activation-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Monoclonal mast cell activation syndrome","Xref_IDs__c":"1260202003; C181652; C4267893; D89.41; MEDGEN:1672509; MONDO:0033954; ORPHA:529468","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0033954","Disease_Description__c":"Mast cell activation syndrome where KIT-mutated and clonal mast cells are detected.","GARD_Name__c":"Monoclonal mast cell activation syndrome","GARD_Synonym__c":"monoclonal mcad; monoclonal mcad (mast cell activation disorder); primary mast cell activation syndrome; primary mcas","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Monoclonal mast cell activation syndrome (MMAS) is a rare immunological disorder characterized by recurrent episodes of allergy, flushing, stomach and intestinal cramping, diarrhea, wheezing, fatigue and a temporary loss of consciousness caused by a fall in blood pressure (hypotension). MMAS is very similar to systemic mastocytosis but without the itchy skin patches known as urticaria pigmentosa. Symptoms may be triggered by a number of factors, including eating, exertion, environmental conditions, emotional stress, or insect stings. It is caused by a very small change in the KIT gene which results in a defect of the mast cells.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:529468","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0033954","ORPHANET_ID__c":"ORPHA:529468","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de activación mastocitaria monoclonal","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de activación mastocitaria monoclonal","Spanish_GARD_Synonym__c":"sam monoclonal","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":"Monoclonal mast cell activation syndrome (MMAS) is a rare immunological disorder characterized by recurrent episodes of allergy, flushing, stomach and intestinal cramping, diarrhea, wheezing, fatigue and a temporary loss of consciousness caused by a fall in blood pressure (hypotension). MMAS is very similar to systemic mastocytosis but without the itchy skin patches known as urticaria pigmentosa. Symptoms may be triggered by a number of factors, including eating, exertion, environmental conditions, emotional stress, or insect stings. It is caused by a very small change in the KIT gene which results in a defect of the mast cells.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"monoclonal mcad; monoclonal mcad (mast cell activation disorder); primary mast cell activation syndrome; primary mcas","Name":"Monoclonal mast cell activation syndrome","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"The Mast Cell Disease Society","Website__c":"https://tmsforacure.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:529468"}],"External_Identifier_Disease__c":[{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C181652","Source__c":"C4267893; MONDO:0033954","Xref__c":"C181652"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4267893","Source__c":"C4267893","Xref__c":"C4267893"},{"URL__c":"https://www.orpha.net/en/disease/detail/529468","Source__c":"C4267893; MONDO:0033954; ORPHA:529468","Xref__c":"ORPHA:529468"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1672509","Source__c":"C4267893","Xref__c":"MEDGEN:1672509"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0033954","Source__c":"GARD:0012980","Xref__c":"MONDO:0033954"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/D89.41","Source__c":"MONDO:0033954","Xref__c":"D89.41"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1260202003","Source__c":"C4267893","Xref__c":"1260202003"}],"tags":{"Specialist":["Cancer - Oncologist","Hematology","Pediatrics"],"Disease Category":["Cancer","Hematology"]},"synonyms":["monoclonal mcad"," monoclonal mcad (mast cell activation disorder)"," primary mast cell activation syndrome"," primary mcas"]}