{"Name":"Inherited susceptibility to mycobacterial diseases","DiseaseID__c":"GARD:0012977","id":12977,"encodedName":"inherited-susceptibility-to-mycobacterial-diseases","IsDeleted":false,"Disease_Name_Full__c":"Inherited susceptibility to mycobacterial diseases","Xref_IDs__c":"C3266863; MEDGEN:473805; MONDO:0019146; ORPHA:748","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"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":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0019146","Disease_Description__c":"Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare immunodeficiency syndrome, characterized by a narrow vulnerability to poorly virulent mycobacteria, such as bacillus Calmette-Guérin (BCG) vaccines and environmental mycobacteria (EM), and defined by severe, recurrent infections, either disseminated or localized.","GARD_Name__c":"Inherited susceptibility to mycobacterial diseases","GARD_Synonym__c":"idiopathic infection caused by bcg or atypical mycobacteria; mammalian susceptibility to mycobacterial disease; mendelian susceptibility to atypical mycobacteria; mendelian susceptibility to mycobacterial diseases; mendelian susceptibility to mycobacterial infections; msmd; mycobacterium caused genetic susceptibility to infections due to particular pathogens; mycobacterium genetic susceptibility to infections due to particular pathogens","Curated_Disease_Description_Source__c":"GARD:0012977","Curated_Disease_Description__c":"Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare immunodeficiency syndrome, with susceptibility to mycobacteria, such as the vaccine against tuberculosis (bacillus Calmette-Guerin (BCG) and environmental mycobacteria. It is characterized by severe, recurrent infections, either systemic (widespread) or localized. The most serious types are the autosomal recessive complete interferon gamma receptor 1 (IFN-gammaR1) and receptor 2 (IFN-gammaR2) deficiencies. Only about half of patients with MSMD have an identified genetic cause. Nine genes are known to be responsible for MSMD. Seven of them are inherited in an autosomal recessive or autosomal dominant pattern (IFNGR1, IFNGR2, STAT1, IL12B, IL12RB1, IRF8 and ISG15 genes) and 2 are X-linked (IKBKG and CYBB genes).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:748","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0019146","ORPHANET_ID__c":"ORPHA:748","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Susceptibilidad mendeliana a enfermedades micobacterianas","Spanish_Description_Source__c":"ORPHA:748","Spanish_Description__c":"La susceptibilidad mendeliana a enfermedades micobacterianas (MSMD) es un síndrome de inmunodeficiencia poco frecuente, caracterizado por una vulnerabilidad específica a micobacterias poco virulentas, como las vacunas del bacilo de Calmette-Guérin (BCG) y micobacterias ambientales (EM), y que se define por infecciones recurrentes graves, tanto diseminadas como localizadas.","Spanish_Disease_Name__c":"susceptibilidad mendeliana a enfermedades micobacterianas","Spanish_GARD_Synonym__c":"infección idiopática por bcg o micobacterias atípicas; msmd; susceptibilidad mendeliana a infecciones micobacterianas; susceptibilidad mendeliana a micobacterias atípicas","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":"Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare immunodeficiency syndrome, with susceptibility to mycobacteria, such as the vaccine against tuberculosis (bacillus Calmette-Guerin (BCG) and environmental mycobacteria. It is characterized by severe, recurrent infections, either systemic (widespread) or localized. The most serious types are the autosomal recessive complete interferon gamma receptor 1 (IFN-gammaR1) and receptor 2 (IFN-gammaR2) deficiencies. Only about half of patients with MSMD have an identified genetic cause. Nine genes are known to be responsible for MSMD. Seven of them are inherited in an autosomal recessive or autosomal dominant pattern (IFNGR1, IFNGR2, STAT1, IL12B, IL12RB1, IRF8 and ISG15 genes) and 2 are X-linked (IKBKG and CYBB genes).","Curated_Disease_Description_Source__c":"GARD:0012977","GARD_Synonym__c":"idiopathic infection caused by bcg or atypical mycobacteria; mammalian susceptibility to mycobacterial disease; mendelian susceptibility to atypical mycobacteria; mendelian susceptibility to mycobacterial diseases; mendelian susceptibility to mycobacterial infections; msmd; mycobacterium caused genetic susceptibility to infections due to particular pathogens; mycobacterium genetic susceptibility to infections due to particular pathogens","Name":"Inherited susceptibility to mycobacterial diseases","estimateUsa":""}],"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":"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":"All ages","Provided_By__c":"ORPHA:748"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3266863","Source__c":"C3266863","Xref__c":"C3266863"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=473805","Source__c":"C3266863","Xref__c":"MEDGEN:473805"},{"URL__c":"https://www.orpha.net/en/disease/detail/748","Source__c":"C3266863; MONDO:0019146; ORPHA:748","Xref__c":"ORPHA:748"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019146","Source__c":"GARD:0012977","Xref__c":"MONDO:0019146"}],"Inheritance__c":["Autosomal recessive","X-linked recessive","Autosomal dominant"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Immunology","Pediatrics"],"Account":["Primary Immune Deficiencies"]},"synonyms":["idiopathic infection caused by bcg or atypical mycobacteria"," mammalian susceptibility to mycobacterial disease"," mendelian susceptibility to atypical mycobacteria"," mendelian susceptibility to mycobacterial diseases"," mendelian susceptibility to mycobacterial infections"," msmd"," mycobacterium caused genetic susceptibility to infections due to particular pathogens"," mycobacterium genetic susceptibility to infections due to particular pathogens"]}