{"orpha":47,"name":"X-linked agammaglobulinemia","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["BTK-deficiency","Bruton type agammaglobulinemia"],"definition":"A clinically variable form of isolated agammaglobulinemia, an inherited immunodeficiency disorder, characterized in affected males by recurrent bacterial infections during infancy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-47/","orphanet_url":"https://www.orpha.net/en/disease/detail/47","names":{"fr":{"name":"Agammaglobulinémie liée à l'X","synonyms":["Agammaglobulinémie type Bruton","Déficit en BTK"],"definition":"L'agammaglobulinémie liée à l'X est une forme cliniquement variable de l'agammaglobulinémie isolée, une immunodéficience héréditaire, et est caractérisée chez les garçons affectés par des infections bactériennes récurrentes au cours de l'enfance."},"de":{"name":"Agammaglobulinämie, X-chromosomale","synonyms":["Agammaglobulinämie Typ Bruton","BTK-Defizienz","BTK-Mangel"],"definition":"Eine klinisch variable Form der isolierten Agammaglobulinämie, eines erblichen Immundefekts, die bei betroffenen männlichen Patienten durch wiederkehrende bakterielle Infektionen im Säuglingsalter gekennzeichnet ist."},"es":{"name":"Agammaglobulinemia ligada al cromosoma X","synonyms":["Agammaglobulinemia tipo Bruton","Deficiencia de BTK"],"definition":"Es una forma clínicamente variable de agammaglobulinemia aislada, una inmunodeficiencia hereditaria, caracterizada por infecciones bacterianas recurrentes en los varones afectados durante la lactancia."},"it":{"name":"Agammaglobulinemia legata all'X","synonyms":["Agammaglobulinemia, tipo Bruton","Deficit di BTK"]},"nl":{"name":"X-gebonden agammaglobulinemie","synonyms":["BTK-deficiëntie","Bruton-type agammaglobulinemie"],"definition":"Een klinisch variabele vorm van geïsoleerde agammaglobulinemie, een erfelijke immuundeficiëntie, die bij getroffen mannen gekarakteriseerd wordt door recurrente bacteriële infecties in de zuigelingentijd."},"pt":{"name":"Agamaglobulinemia ligada ao X","synonyms":["Agamaglobulinemia tipo Brutton","Deficiência de BTK"]},"pl":{"name":"Agammaglobulinemia sprzężona z chromosomem X","synonyms":["Agammaglobulinemia typu Brutona","Niedobór BTK"]},"cs":{"name":"X-vázaná agamaglobulinemie","synonyms":["Deficit BTK","Brutonova agamaglobulinemie","X-vázaná hypogamaglobulinemie","Brutonova nemoc"]},"uk":{"name":"Х-зчеплена агаммаглобулінемія","synonyms":["Агаммаглобулінемія типу Брутона","Дефіцит BTK"],"definition":"A clinically variable form of isolated agammaglobulinemia, an inherited immunodeficiency disorder, characterized in affected males by recurrent bacterial infections during infancy."},"zh":{"name":"X连锁无丙种球蛋白血症","synonyms":["Bruton型无丙种球蛋白血症"]},"tr":{"name":"X'e bağlı agamaglobulinemi","synonyms":["BTK-eksikliği","Bruton tipi agamaglobulinemi"]}},"xrefs":[{"source":"OMIM","code":"300310","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"300755","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D80.0","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"4A01.00","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1594688835"},{"source":"MONDO","code":"0010421","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537409","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0221026","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1033","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10060360","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":229717,"name":"Non-syndromic agammaglobulinemia","classifications":[152,156,195,233]}],"children":[],"genes":[{"symbol":"BTK","name":"Bruton tyrosine kinase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301626[PMID]","hgnc":"1133","ensembl":"ENSG00000010671","omim":"300300","loci":["Xq22.1"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.1,"area":"Europe","status":"Not yet validated","source":"19419768[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.22,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.18,"area":"France","status":"Validated","source":"19419768[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.21,"area":"Italy","status":"Validated","source":"19419768[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.08,"area":"United Kingdom","status":"Validated","source":"19419768[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.06,"area":"Spain","status":"Validated","source":"19419768[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.03,"area":"Germany","status":"Validated","source":"19419768[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.09,"area":"Poland","status":"Validated","source":"19419768[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.13,"area":"Croatia","status":"Validated","source":"19419768[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.16,"area":"Hungary","status":"Validated","source":"19419768[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.25,"area":"North Macedonia","status":"Validated","source":"19419768[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.1,"area":"Slovenia","status":"Validated","source":"19419768[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.09,"area":"Serbia","status":"Validated","source":"19419768[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.04,"area":"Ukraine","status":"Validated","source":"19419768[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.06,"area":"Belarus","status":"Validated","source":"19419768[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.03,"area":"Romania","status":"Validated","source":"19419768[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.26,"area":"United States","status":"Validated","source":"16862044[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.07,"area":"United States","status":"Validated","source":"16862044[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.11,"area":"Korea, Republic of","status":"Validated","source":"22787376[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0100763","label":"Abnormality of the lymphatic system","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100765","label":"Abnormality of the tonsils","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004432","label":"Agammaglobulinemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002028","label":"Chronic diarrhea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000389","label":"Chronic otitis media","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000509","label":"Conjunctivitis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000162","label":"Glossoptosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002721","label":"Immunodeficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100838","label":"Recurrent cutaneous abscess formation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006532","label":"Recurrent pneumonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000246","label":"Sinusitis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000988","label":"Skin rash","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200042","label":"Skin ulcer","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002088","label":"Abnormal lung morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001369","label":"Arthritis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100658","label":"Cellulitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001875","label":"Decreased total neutrophil count","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002901","label":"Hypocalcemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001287","label":"Meningitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100806","label":"Sepsis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001596","label":"Alopecia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002960","label":"Autoimmunity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012115","label":"Hepatitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001053","label":"Hypopigmented skin patches","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002024","label":"Malabsorption","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002664","label":"Neoplasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002754","label":"Osteomyelitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Occasional (29-5%)","criteria":null}]}}