{"Name":"Proteosome-associated autoinflammatory syndrome","DiseaseID__c":"GARD:0013824","id":13824,"encodedName":"proteosome-associated-autoinflammatory-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Proteosome-associated autoinflammatory syndrome","Xref_IDs__c":"702449004; C1850568; C538334; DOID:0050553; DOID:0060913; MEDGEN:376827; MONDO:0009726; OMIMPS:256040; ORPHA:324977","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":5,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":2,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":2,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":3,"Description_Source__c":"ORPHA:324977","Disease_Description__c":"A rare, autosomal recessive autoinflammatory disorder characterized by early-onset erythematous popular/nodular skin eruptions, recurrent fever, possible joint contractures, lipodystrophy, erythematous inflammatory skin changes, joint and muscle involvement (joint contractures, arthralgia, muscle weakness), and hepatosplenomegaly.","GARD_Name__c":"Proteosome-associated autoinflammatory syndrome","GARD_Synonym__c":"aldd; aldd syndrome; autoinflammation-lipodystrophy-dermatosis syndrome; autoinflammation, lipodystrophy and dermatosis syndrome; autoinflammation, lipodystrophy, and dermatosis syndrome; candle syndrome; chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature; chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome; chronic atypical neutrophilic dermatosis-lipodystrophy-elevated temperature syndrome; japanese autoinflammatory syndrome with lipodystrophy; jmp syndrome; joint contractures - muscle atrophy - microcytic anaemia - panniculitis-induced lipodystrophy; joint contractures - muscle atrophy - microcytic anemia - panniculitis-induced lipodystrophy; joint contractures-muscular atrophy-microcytic anemia-panniculitis-associated lipodystrophy syndrome; joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy; nakajo nishimura syndrome; nakajo syndrome; nakajo-nishimura syndrome; nns; praas; proteasome disability syndrome; proteasome-associated autoinflammatory syndrome; secondary hypertrophic osteoperiostosis with pernio","Curated_Disease_Description_Source__c":"ORPHA:324977","Curated_Disease_Description__c":"A rare, autosomal recessive autoinflammatory disorder characterized by early-onset erythematous popular/nodular skin eruptions, recurrent fever, possible joint contractures, lipodystrophy, erythematous inflammatory skin changes, joint and muscle involvement (joint contractures, arthralgia, muscle weakness), and hepatosplenomegaly.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"from Birth to Childhood","SourceID__c":"ORPHA:324977","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0009726","ORPHANET_ID__c":"ORPHA:324977","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome autoinflamatorio asociado al proteosoma","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome autoinflamatorio asociado al proteosoma","Spanish_GARD_Synonym__c":"praas; síndrome de aldd; síndrome de autoinflamación-lipodistrofia-dermatosis; síndrome de discapacidad por proteosoma","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":"A rare, autosomal recessive autoinflammatory disorder characterized by early-onset erythematous popular/nodular skin eruptions, recurrent fever, possible joint contractures, lipodystrophy, erythematous inflammatory skin changes, joint and muscle involvement (joint contractures, arthralgia, muscle weakness), and hepatosplenomegaly.","Curated_Disease_Description_Source__c":"ORPHA:324977","GARD_Synonym__c":"aldd; aldd syndrome; autoinflammation-lipodystrophy-dermatosis syndrome; autoinflammation, lipodystrophy and dermatosis syndrome; autoinflammation, lipodystrophy, and dermatosis syndrome; candle syndrome; chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature; chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome; chronic atypical neutrophilic dermatosis-lipodystrophy-elevated temperature syndrome; japanese autoinflammatory syndrome with lipodystrophy; jmp syndrome; joint contractures - muscle atrophy - microcytic anaemia - panniculitis-induced lipodystrophy; joint contractures - muscle atrophy - microcytic anemia - panniculitis-induced lipodystrophy; joint contractures-muscular atrophy-microcytic anemia-panniculitis-associated lipodystrophy syndrome; joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy; nakajo nishimura syndrome; nakajo syndrome; nakajo-nishimura syndrome; nns; praas; proteasome disability syndrome; proteasome-associated autoinflammatory syndrome; secondary hypertrophic osteoperiostosis with pernio","Name":"Proteosome-associated autoinflammatory syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Autoinflammatory Alliance","Website__c":"https://www.autoinflammatory.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":"Endocrine","Tag_Category__c":"Disease Category;Specialist","category_description":"Endocrine diseases affect hormone production or how the body responds to a specific hormone(s).","curated_tag_name":"Endocrine diseases"},{"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:324977"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:324977"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:324977"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=702449004","Source__c":"C1850568; MONDO:0009726","Xref__c":"702449004"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS256040","Source__c":"MONDO:0009726","Xref__c":"OMIMPS:256040"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1850568","Source__c":"C1850568","Xref__c":"C1850568"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C538334","Source__c":"MONDO:0009726","Xref__c":"C538334"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0050553","Source__c":"MONDO:0009726","Xref__c":"DOID:0050553"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=376827","Source__c":"C1850568","Xref__c":"MEDGEN:376827"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060913","Source__c":"MONDO:0009726","Xref__c":"DOID:0060913"},{"URL__c":"https://www.orpha.net/en/disease/detail/324977","Source__c":"C1850568; MONDO:0009726","Xref__c":"ORPHA:324977"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009726","Source__c":"GARD:0013824","Xref__c":"MONDO:0009726"},{"URL__c":"https://medlineplus.gov/genetics/condition/nakajo-nishimura-syndrome"},{"URL__c":"https://medlineplus.gov/genetics/condition/nakajo-nishimura-syndrome","Source__c":"GARD:0013824","Xref__c":"https://medlineplus.gov/genetics/condition/nakajo-nishimura-syndrome"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"PSMB8","GHR_URL__c":"https://medlineplus.gov/genetics/gene/psmb8","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Endocrine","Dermatology"],"Specialist":["Genetics","Rheumatology","Endocrine","Dermatology","Pediatrics"],"Account":["Dermatology"]},"synonyms":["aldd"," aldd syndrome"," autoinflammation-lipodystrophy-dermatosis syndrome"," autoinflammation, lipodystrophy and dermatosis syndrome"," autoinflammation, lipodystrophy, and dermatosis syndrome"," candle syndrome"," chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature"," chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome"," chronic atypical neutrophilic dermatosis-lipodystrophy-elevated temperature syndrome"," japanese autoinflammatory syndrome with lipodystrophy"," jmp syndrome"," joint contractures - muscle atrophy - microcytic anaemia - panniculitis-induced lipodystrophy"," joint contractures - muscle atrophy - microcytic anemia - panniculitis-induced lipodystrophy"," joint contractures-muscular atrophy-microcytic anemia-panniculitis-associated lipodystrophy syndrome"," joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy"," nakajo nishimura syndrome"," nakajo syndrome"," nakajo-nishimura syndrome"," nns"," praas"," proteasome disability syndrome"," proteasome-associated autoinflammatory syndrome"," secondary hypertrophic osteoperiostosis with pernio"]}