{"Name":"Cryopyrin associated periodic syndrome","DiseaseID__c":"GARD:0010927","id":10927,"encodedName":"cryopyrin-associated-periodic-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Cryopyrin associated periodic syndrome","Xref_IDs__c":"430079001; C2316212; C84657; D056587; MEDGEN:412215; MONDO:0016168; ORPHA:208650","USA_Estimate__c":"5,000","No_of_Specialist_Tagsa__c":5,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":4,"Description_Source__c":"MONDO:0016168","Disease_Description__c":"Cryopyrin associated periodic syndrome (CAPS) defines a group of autoinflammatory diseases, characterized by recurrent episodes of systemic inflammatory attacks in the absence of infection or autoimmune disease. CAPS comprises 3 disorders on a continuum of severity: severe CINCA syndrome, intermediate Muckle-Wells syndrome (MWS) and milder familial cold urticaria (FCAS) (see these terms).","GARD_Name__c":"Cryopyrin associated periodic syndrome","GARD_Synonym__c":"caps; cryopyrin-associated periodic syndrome; cryopyrinopathy; nlrp3-associated systemic autoinflammatory disease","Curated_Disease_Description_Source__c":"MONDO:0016168","Curated_Disease_Description__c":"Cryopyrin associated periodic syndrome (CAPS) defines a group of autoinflammatory diseases, characterized by recurrent episodes of systemic inflammatory attacks in the absence of infection or autoimmune disease. CAPS comprises 3 disorders on a continuum of severity: severe CINCA syndrome, intermediate Muckle-Wells syndrome (MWS) and milder familial cold urticaria (FCAS) (see these terms).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:208650","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0016168","ORPHANET_ID__c":"ORPHA:208650","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad autoinflamatoria asociada a nlrp3","Spanish_Description_Source__c":"ORPHA:208650","Spanish_Description__c":"El síndrome periódico asociado a la criopirina (CAPS, siglas en inglés) define un grupo de enfermedades autoinflamatorias que se caracterizan por episodios recurrentes de ataques inflamatorios sistémicos en ausencia de infección o enfermedad autoinmune. El CAPS comprende tres trastornos en un continuo de gravedad: síndrome de CINCA, grave, síndrome de Muckle-Wells (SMW), intermedio, y urticaria familiar por frío (FCAS, siglas en inglés), leve (ver estos términos).","Spanish_Disease_Name__c":"enfermedad autoinflamatoria asociada a nlrp3","Spanish_GARD_Synonym__c":"caps; criopirinopatía; eai asociada a nlrp3; síndrome autoinflamatorio asociado a nlrp3; síndrome periódico asociado a la criopirina","Category_Linearization__c":"ORPHA:98023","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":"Cryopyrin associated periodic syndrome (CAPS) defines a group of autoinflammatory diseases, characterized by recurrent episodes of systemic inflammatory attacks in the absence of infection or autoimmune disease. CAPS comprises 3 disorders on a continuum of severity: severe CINCA syndrome, intermediate Muckle-Wells syndrome (MWS) and milder familial cold urticaria (FCAS) (see these terms).","Curated_Disease_Description_Source__c":"MONDO:0016168","GARD_Synonym__c":"caps; cryopyrin-associated periodic syndrome; cryopyrinopathy; nlrp3-associated systemic autoinflammatory disease","Name":"Cryopyrin associated periodic syndrome","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"The International Foundation for Autoimmune & Autoinflammatory Arthritis","Website__c":"https://www.aiarthritis.org/"},{"Account_Name__c":"Autoinflammatory Alliance","Website__c":"https://www.autoinflammatory.org/"},{"Account_Name__c":"FMF & AID Global Association","Website__c":"https://www.fmfandaid.org/"},{"Account_Name__c":"Rare Autoinflammatory Conditions Community - UK","Website__c":"https://www.raccuk.com/"}],"GARD_Disease_Tag__c":[{"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":"Rheumatology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Immunology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Dermatology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Skin diseases, or integumentary system diseases, affect the skin, hair, nails, sweat glands, or oil glands.","curated_tag_name":"Skin diseases"},{"Tag_Name__c":"Primary Immune Deficiencies","Tag_Category__c":"Account","curated_tag_name":"Primary immunodeficiency"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:208650"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:208650"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:208650"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:208650"}],"External_Identifier_Disease__c":[{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C84657","Source__c":"C2316212; MONDO:0016168","Xref__c":"C84657"},{"URL__c":"https://www.orpha.net/en/disease/detail/208650","Source__c":"C2316212; MONDO:0016168; ORPHA:208650","Xref__c":"ORPHA:208650"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=430079001","Source__c":"C2316212; MONDO:0016168","Xref__c":"430079001"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=412215","Source__c":"C2316212","Xref__c":"MEDGEN:412215"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C056587","Source__c":"C2316212; MONDO:0016168","Xref__c":"D056587"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2316212","Source__c":"C2316212","Xref__c":"C2316212"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016168","Source__c":"GARD:0010927","Xref__c":"MONDO:0016168"},{"URL__c":"https://medlineplus.gov/genetics/condition/cryopyrin-associated-periodic-syndromes"}],"Inheritance__c":["Autosomal dominant"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology"],"Specialist":["Genetics","Rheumatology","Immunology","Dermatology","Pediatrics"],"Account":["Dermatology","Primary Immune Deficiencies"]},"synonyms":["caps"," cryopyrin-associated periodic syndrome"," cryopyrinopathy"," nlrp3-associated systemic autoinflammatory disease"]}