{"Name":"Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis","DiseaseID__c":"GARD:0017494","id":17494,"encodedName":"autoinflammatory-syndrome-with-pyogenic-bacterial-infection-and-amylopectinosis","IsDeleted":false,"Disease_Name_Full__c":"Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis","Xref_IDs__c":"829973009; C5394674; MEDGEN:1720168; MONDO:0017992; ORPHA:329173","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":1,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"ORPHA:329173","Disease_Description__c":"A rare, genetic, mixed autoinflammatory and autoimmune syndrome characterized by chronic systemic autoinflammation (presenting as recurrent fever in the neonatal or infantile period) and combined immunodeficiency (manifesting as recurrent viral and invasive bacterial infections). Muscular amylopectinosis may be subclinical or be complicated by myopathy/cardiomyopathy.","GARD_Name__c":"Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis","GARD_Synonym__c":null,"Curated_Disease_Description_Source__c":"ORPHA:329173","Curated_Disease_Description__c":"A rare, genetic, mixed autoinflammatory and autoimmune syndrome characterized by chronic systemic autoinflammation (presenting as recurrent fever in the neonatal or infantile period) and combined immunodeficiency (manifesting as recurrent viral and invasive bacterial infections). Muscular amylopectinosis may be subclinical or be complicated by myopathy/cardiomyopathy.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:329173","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0017992","ORPHANET_ID__c":"ORPHA:329173","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome autoinflamatorio con infección bacteriana piogénica y amilopectinosis","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome autoinflamatorio con infección bacteriana piogénica y amilopectinosis","Spanish_GARD_Synonym__c":"deficiencia de hoil1","Category_Linearization__c":"ORPHA:98004","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, genetic, mixed autoinflammatory and autoimmune syndrome characterized by chronic systemic autoinflammation (presenting as recurrent fever in the neonatal or infantile period) and combined immunodeficiency (manifesting as recurrent viral and invasive bacterial infections). Muscular amylopectinosis may be subclinical or be complicated by myopathy/cardiomyopathy.","Curated_Disease_Description_Source__c":"ORPHA:329173","Name":"Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"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":"Infancy","Provided_By__c":"ORPHA:329173"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:329173"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/329173","Source__c":"C5394674; MONDO:0017992; ORPHA:329173","Xref__c":"ORPHA:329173"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1720168","Source__c":"C5394674","Xref__c":"MEDGEN:1720168"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5394674","Source__c":"C5394674","Xref__c":"C5394674"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=829973009","Source__c":"C5394674","Xref__c":"829973009"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017992","Source__c":"GARD:0017494","Xref__c":"MONDO:0017992"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"RNF31","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"RBCK1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Rheumatology","Immunology","Pediatrics"],"Account":["Primary Immune Deficiencies"]},"synonyms":[""]}