{"Name":"Mast cell activation syndrome","DiseaseID__c":"GARD:0012981","id":12981,"encodedName":"mast-cell-activation-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Mast cell activation syndrome","Xref_IDs__c":"16697871000119100; C5200989; D000090267; MEDGEN:1698540; MONDO:0100004","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"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":3,"Disease_Characteristics_Score__c":2,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0100004","Disease_Description__c":"A clinically defined disease states with a largely unknown morphological background. Acute mast cell activation (MCA) is commonly seen in allergic reactions and often leads to the clinical signs and symptoms of anaphylaxis. Severe or even life‐threatening MCA may occur when the burden of mast cells is high and/or these cells are in an hyperactivated state. Mastocytosis may be associated with mast cell activation syndrome (MCAS).","GARD_Name__c":"Mast cell activation syndrome","GARD_Synonym__c":"disorder of mast cell activation; macs; mast cell activation disease; mcad - mast cell activation disorder","Curated_Disease_Description_Source__c":"GARD:0012981","Curated_Disease_Description__c":"Mast cell activation syndrome (MCAS) causes a person to have repeated severe allergy symptoms affecting several body systems. In MCAS, mast cells mistakenly release too many chemical agents, resulting in symptoms in the skin, gastrointestinal tract, heart, respiratory, and neurologic systems. Mast cells are present throughout most of our bodies and secrete different chemicals during allergic reactions. Symptoms include episodes of abdominal pain, cramping, diarrhea, flushing, itching, wheezing, coughing, lightheadedness and rapid pulse and low blood pressure. Symptoms can start at any age, but usually begin in adulthood. The cause of MCAS is unknown. Diagnosis is based on the symptoms, clinical exam, and specific laboratory testing. Other conditions may need to be excluded before MCAS can be diagnosed.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":null,"Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0100004","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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":"Mast cell activation syndrome (MCAS) causes a person to have repeated severe allergy symptoms affecting several body systems. In MCAS, mast cells mistakenly release too many chemical agents, resulting in symptoms in the skin, gastrointestinal tract, heart, respiratory, and neurologic systems. Mast cells are present throughout most of our bodies and secrete different chemicals during allergic reactions. Symptoms include episodes of abdominal pain, cramping, diarrhea, flushing, itching, wheezing, coughing, lightheadedness and rapid pulse and low blood pressure. Symptoms can start at any age, but usually begin in adulthood. The cause of MCAS is unknown. Diagnosis is based on the symptoms, clinical exam, and specific laboratory testing. Other conditions may need to be excluded before MCAS can be diagnosed.","Curated_Disease_Description_Source__c":"GARD:0012981","GARD_Synonym__c":"disorder of mast cell activation; macs; mast cell activation disease; mcad - mast cell activation disorder","Name":"Mast cell activation syndrome","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Allergy & Asthma Network Mothers of Asthmatics","Website__c":"https://allergyasthmanetwork.org/"},{"Account_Name__c":"The Mast Cell Disease Society","Website__c":"https://tmsforacure.org/"},{"Account_Name__c":"Mast Cell Action","Website__c":"https://www.mastcellaction.org/"},{"Account_Name__c":"UK Mastocytosis Support Group","Website__c":"https://ukmasto.org/"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C000090267","Source__c":"C5200989; MONDO:0100004","Xref__c":"D000090267"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5200989","Source__c":"C5200989","Xref__c":"C5200989"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1698540","Source__c":"C5200989","Xref__c":"MEDGEN:1698540"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=16697871000119100","Source__c":"C5200989","Xref__c":"16697871000119100"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0100004","Source__c":"GARD:0012981","Xref__c":"MONDO:0100004"}],"tags":{},"synonyms":["disorder of mast cell activation"," macs"," mast cell activation disease"," mcad - mast cell activation disorder"]}