{"Name":"Immunoglobulin A deficiency 2","DiseaseID__c":"GARD:0010198","id":10198,"encodedName":"immunoglobulin-a-deficiency-2","IsDeleted":false,"Disease_Name_Full__c":"Immunoglobulin A deficiency 2","Xref_IDs__c":"C1836032; C536291; MEDGEN:372182; MONDO:0012291; OMIM:609529","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":1,"Disease_Characteristics_Score__c":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0012291","Disease_Description__c":"Any selective IgA deficiency disease in which the cause of the disease is a mutation in the TNFRSF13B gene.","GARD_Name__c":"Immunoglobulin A deficiency 2","GARD_Synonym__c":"igad2; immunoglobulin a deficiency type 2; selective iga deficiency disease caused by mutation in tnfrsf13b; tnfrsf13b selective iga deficiency disease","Curated_Disease_Description_Source__c":"MONDO:0012291","Curated_Disease_Description__c":"Any selective IgA deficiency disease in which the cause of the disease is a mutation in the TNFRSF13B gene.","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:0012291","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":"Any selective IgA deficiency disease in which the cause of the disease is a mutation in the TNFRSF13B gene.","Curated_Disease_Description_Source__c":"MONDO:0012291","GARD_Synonym__c":"igad2; immunoglobulin a deficiency type 2; selective iga deficiency disease caused by mutation in tnfrsf13b; tnfrsf13b selective iga deficiency disease","Name":"Immunoglobulin A deficiency 2","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Immune Deficiency Foundation","Website__c":"https://www.primaryimmune.org/"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1836032"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/609529","Source__c":"C1836032; MONDO:0012291","Xref__c":"OMIM:609529"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1836032","Source__c":"C1836032","Xref__c":"C1836032"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536291","Source__c":"MONDO:0012291","Xref__c":"C536291"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=372182","Source__c":"C1836032","Xref__c":"MEDGEN:372182"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012291","Source__c":"GARD:0010198","Xref__c":"MONDO:0012291"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"TNFRSF13B","GHR_URL__c":"https://medlineplus.gov/genetics/gene/tnfrsf13b","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:609529","Feature__r":{"HPO_Description__c":"The occurrence of an immune reaction against the organism's own cells or tissues.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002960","HPO_Synonym__c":"Autoimmune condition; Autoimmune disease; Autoimmune disorder; Autoimmunity","HPO_Name__c":"Autoimmunity","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:609529","Feature__r":{"HPO_Description__c":"An abnormality of lymphocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004332","HPO_Synonym__c":"Abnormal lymphocytes; Abnormality of cells of the lymphoid lineage","HPO_Name__c":"Abnormal lymphocyte morphology","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:609529","Feature__r":{"HPO_Description__c":"An increased susceptibility to infections involving both the paranasal sinuses and the lungs, as manifested by a history of recurrent sinopulmonary infections.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005425","HPO_Synonym__c":"Chronic sinopulmonary infection; Recurrent sinus and lung infections","HPO_Name__c":"Recurrent sinopulmonary infections","Feature_System__c":"Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:609529","Feature__r":{"HPO_Description__c":"Decreased levels of immunoglobulin A (IgA).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002720","HPO_Synonym__c":"Decreased circulating IgA level; Decreased IgA; Decreased immunoglobulin A; Gamma-A globulin deficiency; IgA deficiency; Low levels of immunoglobulin A; Reduced IgA levels","HPO_Name__c":"Decreased circulating IgA concentration","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:609529","Feature__r":{"HPO_Description__c":"Recurrent infection of the gastrointestinal tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004798","HPO_Synonym__c":"Recurrent gastrointestinal infections; Recurrent infection of the gastrointestinal tract; Recurrent infection of the GI tract","HPO_Name__c":"Recurrent infection of the gastrointestinal tract","Feature_System__c":"Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}}],"tags":{},"synonyms":["igad2"," immunoglobulin a deficiency type 2"," selective iga deficiency disease caused by mutation in tnfrsf13b"," tnfrsf13b selective iga deficiency disease"]}