{"orpha":33110,"name":"Autosomal non-syndromic agammaglobulinemia","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Autosomal non-syndromic hypogammaglobulinemia","Non-syndromic agammaglobulinemia, non-Bruton type"],"definition":"A rare form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by variable immune dysfunction with frequent and recurrent bacterial infections and/or chronic diarrhea.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-33110/","orphanet_url":"https://www.orpha.net/en/disease/detail/33110","names":{"fr":{"name":"Agammaglobulinémie autosomique non syndromique","synonyms":["Agammaglobulinémie non syndromique type non-Bruton","Hypogammaglobulinémie autosomique non syndromique"],"definition":"L'agammaglobulinémie autosomique (agammaglobulinémie type non-Bruton) est une forme rare d'agammaglobulinémie, un trouble de l'immunodéficience primaire. Elle est caractérisée par une dysfonction variable du système immunitaire, associée à des infections bactériennes fréquentes et récurrentes, et/ou une diarrhée chronique."},"de":{"name":"Autosomale nicht-syndromale Agammaglobulinämie","synonyms":["Nicht-syndromale Agammaglobulinämie (anders als Bruton-Typ)","Autosomale nicht-syndromale Hypogammaglobulinämie"]},"es":{"name":"Agammaglobulinemia no sindrómica autosómica","synonyms":["Hipogammaglobulinemia no sindrómica autosómica","Agammaglobulinemia no sindrómica tipo no Bruton"],"definition":"Es una forma poco frecuente de agammaglobulinemia, una inmunodeficiencia primaria caracterizada por una disfunción inmunitaria variable con infecciones bacterianas frecuentes y recurrentes y/o diarrea crónica."},"it":{"name":"Agammaglobulinemia autosomica non sindromica","synonyms":["Agammaglobulinemia non sindromica, tipo non-Bruton","Ipogammaglobulinemia non sindromica","Ipogammaglobulinemia autosomica non sindromica"]},"nl":{"name":"Autosomale niet-syndromale agammaglobulinemie","synonyms":["Niet-syndromale agammaglobulinemie, niet-Bruton-type","Autosomale niet-syndromale hypogammaglobulinemie"],"definition":"Een zeldzame vorm van agammaglobulinemie, een primaire immuundeficiëntie, gekarakteriseerd door variabele immuundeficiëntie met frequente en terugkerende bacteriële infecties en/of chronische diarree."},"pt":{"name":"Agamaglobulinemia autossómica não sindrómica","synonyms":["Agamaglobulinemia, tipo não-Bruton"],"definition":"Forma rara de agamaglobulinemia, uma doença de imunodeficiência primária, caracterizada por disfunção imunológica variável com infeções bacterianas frequentes e recorrentes e/ou diarreia crónica."},"pl":{"name":"Autosomalna niesyndromiczna agammaglobulinemia","synonyms":["Agammaglobulinemia, typ non-Bruton"]},"cs":{"name":"Autozomální agamaglobulinémie","synonyms":["Non-Brutonova agamaglobulinémie"]},"uk":{"name":"Аутосомна агаммаглобулінемія","synonyms":["Агаммаглобулінемія, не за типом Брутона"],"definition":"A rare form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by variable immune dysfunction with frequent and recurrent bacterial infections and/or chronic diarrhea."},"zh":{"name":"常染色体遗传性丙种球蛋白缺乏血症","synonyms":["丙种球蛋白缺乏血症，非Bruton型"]},"tr":{"name":"Otozomal agamaglobulinemi","synonyms":["Agammaglobulinemi, Bruton olmayan tip"]}},"xrefs":[{"source":"OMIM","code":"601495","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"612692","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613500","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613501","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613502","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613506","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615214","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616941","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619281","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619707","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619824","qualifier":"BTNT","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":"1395443519"},{"source":"MONDO","code":"0011096","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538056","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1832241","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9640","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":"BLNK","name":"B cell linker","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"10583958[PMID]","hgnc":"14211","ensembl":"ENSG00000095585","omim":"604515","loci":["10q24.1"]},{"symbol":"CD79A","name":"CD79a molecule","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"11920841[PMID]","hgnc":"1698","ensembl":"ENSG00000105369","omim":"112205","loci":["19q13.2"]},{"symbol":"CD79B","name":"CD79b molecule","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"17709424[PMID]_17675462[PMID]","hgnc":"1699","ensembl":"ENSG00000007312","omim":"147245","loci":["17q23.3"]},{"symbol":"IGHM","name":"immunoglobulin heavy constant mu","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"8890099[PMID]","hgnc":"5541","ensembl":"ENSG00000211899","omim":"147020","loci":["14q32.33"]},{"symbol":"IGLL1","name":"immunoglobulin lambda like polypeptide 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"9419212[PMID]","hgnc":"5870","ensembl":"ENSG00000128322","omim":"146770","loci":["22q11.23"]},{"symbol":"LRRC8A","name":"leucine rich repeat containing 8 VRAC subunit A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"14660746[PMID]","hgnc":"19027","ensembl":"ENSG00000136802","omim":"608360","loci":["9q34.11"]},{"symbol":"PIK3CD","name":"phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22351933[PMID]","hgnc":"8977","ensembl":"ENSG00000171608","omim":"602839","loci":["1p36.22"]},{"symbol":"PIK3R1","name":"phosphoinositide-3-kinase regulatory subunit 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22351933[PMID]","hgnc":"8979","ensembl":"ENSG00000145675","omim":"171833","loci":["5q13.1"]},{"symbol":"SPI1","name":"Spi-1 proto-oncogene","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"33951726[PMID]","hgnc":"11241","ensembl":"ENSG00000066336","omim":"165170","loci":["11p11.2"]},{"symbol":"TCF3","name":"transcription factor 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24216514[PMID]","hgnc":"11633","ensembl":"ENSG00000071564","omim":"147141","loci":["19p13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["All ages"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":100.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0004432","label":"Agammaglobulinemia","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 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(29-5%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002024","label":"Malabsorption","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001287","label":"Meningitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100806","label":"Sepsis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200043","label":"Verrucae","frequency":"Occasional (29-5%)","criteria":null}]}}