{"Name":"X-linked agammaglobulinemia","DiseaseID__c":"GARD:0001033","id":1033,"encodedName":"x-linked-agammaglobulinemia","IsDeleted":false,"Disease_Name_Full__c":"X-linked agammaglobulinemia","Xref_IDs__c":"65880007; C0221026; C3822; C537409; DOID:14179; MEDGEN:65123; MONDO:0010421; NBK1453; OMIM:300755; ORPHA:47","USA_Estimate__c":"5,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":1,"No_of_HHS_records__c":2,"World_Estimate__c":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":4,"No_of_Disease_Descriptions__c":5,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0010421","Disease_Description__c":"A clinically variable form of isolated agammaglobulinemia, an inherited immunodeficiency disorder, characterized in affected males by recurrent bacterial infections during infancy.","GARD_Name__c":"X-linked agammaglobulinemia","GARD_Synonym__c":"agammaglobulinemia, bruton tyrosine kinase; agammaglobulinemia, btk; agammaglobulinemia, x-linked 1, x-linked recessive; agammaglobulinemia, x-linked, type 1; bruton agammaglobulinemia tyrosine kinase deficiency; bruton type agammaglobulinemia; bruton tyrosine kinase deficiency; bruton-type agammaglobulinemia; bruton's agammaglobulinaemia; bruton's agammaglobulinemia; bruton's hypogammaglobulinemia; bruton's sex-linked agammaglobulinemia; bruton's type agammaglobulinemia; bruton's x-linked agammaglobulinemia; btk deficiency; btk-deficiency; immunodeficiency 1; x linked agammaglobulinemia; xla; xla - x-linked agammaglobulinemia","Curated_Disease_Description_Source__c":"GARD:0001033","Curated_Disease_Description__c":"X-linked agammaglobulinema is a primary immunodeficiency characterized by very low levels of immunoglobulins (proteins made by the immune system to help fight infections). People affected by this condition generally begin developing frequent and recurrent bacterial infections from about 6 months of age. Commonly diagnosed infections include lung infections (pneumonia and bronchitis), middle ear infections, conjunctivitis, sinus infections, various skin infections, and infections that are associated with chronic diarrhea. X-linked agammaglobulinemia is caused by changes in the BTK gene and is inherited in an X-linked recessive manner.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:47","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010421","ORPHANET_ID__c":"ORPHA:47","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Agammaglobulinemia ligada al cromosoma x","Spanish_Description_Source__c":"ORPHA:47","Spanish_Description__c":"Es una forma clínicamente variable de agammaglobulinemia aislada, una inmunodeficiencia hereditaria, caracterizada por infecciones bacterianas recurrentes en los varones afectados durante la lactancia.","Spanish_Disease_Name__c":"agammaglobulinemia ligada al cromosoma x","Spanish_GARD_Synonym__c":"agammaglobulinemia tipo bruton; deficiencia de btk","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":"X-linked agammaglobulinema is a primary immunodeficiency characterized by very low levels of immunoglobulins (proteins made by the immune system to help fight infections). People affected by this condition generally begin developing frequent and recurrent bacterial infections from about 6 months of age. Commonly diagnosed infections include lung infections (pneumonia and bronchitis), middle ear infections, conjunctivitis, sinus infections, various skin infections, and infections that are associated with chronic diarrhea. X-linked agammaglobulinemia is caused by changes in the BTK gene and is inherited in an X-linked recessive manner.","Curated_Disease_Description_Source__c":"GARD:0001033","GARD_Synonym__c":"agammaglobulinemia, bruton tyrosine kinase; agammaglobulinemia, btk; agammaglobulinemia, x-linked 1, x-linked recessive; agammaglobulinemia, x-linked, type 1; bruton agammaglobulinemia tyrosine kinase deficiency; bruton type agammaglobulinemia; bruton tyrosine kinase deficiency; bruton-type agammaglobulinemia; bruton's agammaglobulinaemia; bruton's agammaglobulinemia; bruton's hypogammaglobulinemia; bruton's sex-linked agammaglobulinemia; bruton's type agammaglobulinemia; bruton's x-linked agammaglobulinemia; btk deficiency; btk-deficiency; immunodeficiency 1; x linked agammaglobulinemia; xla; xla - x-linked agammaglobulinemia","Name":"X-linked agammaglobulinemia","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"XLA Life","Website__c":"https://www.xla.life/"},{"Account_Name__c":"Immunodeficiency UK","Website__c":"https://www.immunodeficiencyuk.org/"},{"Account_Name__c":"Jeffrey Modell Foundation","Website__c":"https://www.info4pi.org/"},{"Account_Name__c":"Immune Deficiency Foundation","Website__c":"https://www.primaryimmune.org/"},{"Account_Name__c":"Immune Deficiencies Foundation Australia","Website__c":"http://www.idfa.org.au/"}],"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":"Childhood","Provided_By__c":"ORPHA:47"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0221026"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0001033","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1453","Source__c":"Gene Review","Xref__c":"NBK1453"},{"URL__c":"https://www.omim.org/entry/300755","Source__c":"C0221026; MONDO:0010421; ORPHA:47","Xref__c":"OMIM:300755"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0221026","Source__c":"C0221026","Xref__c":"C0221026"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537409","Source__c":"MONDO:0010421","Xref__c":"C537409"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=65123","Source__c":"C0221026","Xref__c":"MEDGEN:65123"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A14179","Source__c":"MONDO:0010421","Xref__c":"DOID:14179"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=65880007","Source__c":"C0221026; MONDO:0010421","Xref__c":"65880007"},{"URL__c":"https://www.orpha.net/en/disease/detail/47","Source__c":"C0221026; MONDO:0010421; ORPHA:47","Xref__c":"ORPHA:47"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C3822","Source__c":"C0221026; MONDO:0010421","Xref__c":"C3822"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010421","Source__c":"GARD:0001033","Xref__c":"MONDO:0010421"},{"URL__c":"https://medlineplus.gov/genetics/condition/x-linked-agammaglobulinemia"},{"URL__c":"https://medlineplus.gov/genetics/condition/x-linked-agammaglobulinemia","Source__c":"GARD:0001033","Xref__c":"https://medlineplus.gov/genetics/condition/x-linked-agammaglobulinemia"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"BTK","GHR_URL__c":"https://medlineplus.gov/genetics/gene/btk","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["X-linked recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:47","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A reduction in erythrocytes volume or hemoglobin concentration.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001903","HPO_Synonym__c":"Anaemia; 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