{"Name":"A20 haploinsufficiency","DiseaseID__c":"GARD:0026086","id":26086,"encodedName":"a20-haploinsufficiency","IsDeleted":false,"Disease_Name_Full__c":"A20 haploinsufficiency","Xref_IDs__c":"C5849639; MEDGEN:1845429; MONDO:0100222; NBK610430","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":1,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":2,"No_of_Disease_Descriptions__c":1,"Disease_Characteristics_Score__c":1,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0100222","Disease_Description__c":"Any immune dysregulation disease in which the cause of the disease is a mutation in the TNFAIP3 gene.","GARD_Name__c":"A20 haploinsufficiency","GARD_Synonym__c":"ha20; ha20 (haploinsufficiency a20); haploinsufficiency of a20","Curated_Disease_Description_Source__c":"MONDO:0100222","Curated_Disease_Description__c":"Haploinsufficiency of A20 (HA20), a complex immune dysregulation disease, is characterized by recurrent systemic immune dysfunction (i.e., inflammation and/or immune deficiency). The most common manifestations and their frequency include: (1) recurrent painful oral/genital ulcers, typically during disease flares (>70% of persons); (2) recurrent fevers (~50%), typically lasting for three to seven days that can rarely progress to a cytokine storm and/or hemophagocytic lymphohistiocytosis; (3) skin involvement (~40%), including pustular rashes, folliculitis, vasculitic purpura, urticaria, lupus-like macular rashes, and eczematoid dermatitis; (4) gastrointestinal disease (~40%), ranging from dull abdominal pain (due to serositis, ulcers, or bowel inflammation) to severe inflammation with risk of bowel perforation; and (5) arthralgia/arthritis (~34%), typically relapsing and/or remitting nonerosive inflammatory polyarthritis with synovitis, and rarely resembling rheumatoid arthritis or psoriatic-like erosions. Other less common but significant findings include lymphoproliferation, most often lymphadenopathy; liver involvement, including severe hepatitis that if untreated can progress to cirrhosis and liver failure; neurologic disease including central nervous system vasculitis/vasculopathy (manifesting as severe headaches and cognitive changes) and in some individuals transient ischemic attacks. Other findings include aseptic meningitis, mononeuritis multiplex, chronic inflammatory demyelinating polyradiculoneuropathy, and/or peripheral neuropathy.\r\n\r\nHA20 demonstrates both variable expressivity (i.e., different systems may be involved simultaneously and/or over time in an affected individual) and intrafamilial variability (i.e., variability in clinical presentation among affected individuals within the same immediate or extended family).","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 Entity","MONDO_ID__c":"MONDO:0100222","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":"Haploinsufficiency of A20 (HA20), a complex immune dysregulation disease, is characterized by recurrent systemic immune dysfunction (i.e., inflammation and/or immune deficiency). The most common manifestations and their frequency include: (1) recurrent painful oral/genital ulcers, typically during disease flares (>70% of persons); (2) recurrent fevers (~50%), typically lasting for three to seven days that can rarely progress to a cytokine storm and/or hemophagocytic lymphohistiocytosis; (3) skin involvement (~40%), including pustular rashes, folliculitis, vasculitic purpura, urticaria, lupus-like macular rashes, and eczematoid dermatitis; (4) gastrointestinal disease (~40%), ranging from dull abdominal pain (due to serositis, ulcers, or bowel inflammation) to severe inflammation with risk of bowel perforation; and (5) arthralgia/arthritis (~34%), typically relapsing and/or remitting nonerosive inflammatory polyarthritis with synovitis, and rarely resembling rheumatoid arthritis or psoriatic-like erosions. Other less common but significant findings include lymphoproliferation, most often lymphadenopathy; liver involvement, including severe hepatitis that if untreated can progress to cirrhosis and liver failure; neurologic disease including central nervous system vasculitis/vasculopathy (manifesting as severe headaches and cognitive changes) and in some individuals transient ischemic attacks. Other findings include aseptic meningitis, mononeuritis multiplex, chronic inflammatory demyelinating polyradiculoneuropathy, and/or peripheral neuropathy.\r\n\r\nHA20 demonstrates both variable expressivity (i.e., different systems may be involved simultaneously and/or over time in an affected individual) and intrafamilial variability (i.e., variability in clinical presentation among affected individuals within the same immediate or extended family).","Curated_Disease_Description_Source__c":"MONDO:0100222","GARD_Synonym__c":"ha20; ha20 (haploinsufficiency a20); haploinsufficiency of a20","Name":"A20 haploinsufficiency","estimateUsa":""}],"External_Identifier_Disease__c":[{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0100222","Source__c":"GARD:0026086","Xref__c":"MONDO:0100222"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5849639","Source__c":"C5849639","Xref__c":"C5849639"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1845429","Source__c":"C5849639","Xref__c":"MEDGEN:1845429"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1290916005","Source__c":"C5849639","Xref__c":"1290916005"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK610430","Source__c":"Gene Review","Xref__c":"NBK610430"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"TNFAIP3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"tags":{},"synonyms":["ha20"," ha20 (haploinsufficiency a20)"," haploinsufficiency of a20"]}