{"orpha":229717,"name":"Non-syndromic agammaglobulinemia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Non-syndromic hypogammaglobulinemia"],"definition":"Isolated agammaglobulinemia (IA) is the non-syndromic form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by deficient gamma globulins and associated predisposition to frequent and recurrent infections from infancy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-229717/","orphanet_url":"https://www.orpha.net/en/disease/detail/229717","names":{"fr":{"name":"Agammaglobulinémie non syndromique","synonyms":["Hypogammaglobulinémie non syndromique"],"definition":"L'agammaglobulinémie isolée est la forme non syndromique d'agammaglobulinémie, un syndrome d'immunodéficience primaire. Elle se caractérise par un déficit en globulines gamma et est associée à une prédisposition à de fréquentes infections récurrentes dès la petite enfance."},"de":{"name":"Agammaglobulinämie, nicht-syndromale","synonyms":["Hypoagammaglobulinämie, nicht-syndromale"],"definition":"Die isolierte Agammaglobulinämie (IA) ist die nicht-syndromale Form der Agammaglobulinämie, einer primären Immundefektkrankheit, die durch einen Mangel an Gammaglobulinen und eine damit verbundene Prädisposition für häufige und wiederkehrende Infektionen vom Säuglingsalter an gekennzeichnet ist."},"es":{"name":"Agammaglobulinemia no sindrómica","synonyms":["Hipogammaglobulinemia no sindrómica"],"definition":"Es la forma no sindrómica de la agammaglobulinemia, una inmunodeficiencia primaria caracterizada por una deficiencia de gammaglobulinas y una predisposición asociada a infecciones frecuentes y recurrentes desde la lactancia."},"it":{"name":"Agammaglobulinemia non sindromica","synonyms":["Ipogammaglobulinemia non sindromica"]},"nl":{"name":"Niet-syndromale agammaglobulinemie","synonyms":["Niet-syndromale hypogammaglobulinemie"],"definition":"Geïsoleerde agammaglobulinemie (IA) is de niet-syndromale vorm van agammaglobulinemie, een primaire immuundeficiëntie, en wordt gekarakteriseerd door deficiënte gammaglobulinen en een geassocieerde aanleg voor frequente en terugkerende infecties vanaf de zuigelingentijd."},"pt":{"name":"Agamaglobulinemia isolada","synonyms":["Hipogamaglobulinemia isolada"]},"pl":{"name":"Niesyndromiczna agammaglobulinemia","synonyms":["Hipogammaglobulinemia izolowana"]},"cs":{"name":"Izolovaná agamaglobulinémie","synonyms":["Izolovaná hypogamaglobulinémie"]},"uk":{"name":"Ізольована агаммаглобулінемія","synonyms":["Ізольована гіпогаммаглобулінемія"],"definition":"Isolated agammaglobulinemia (IA) is the non-syndromic form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by deficient gamma globulins and associated predisposition to frequent and recurrent infections from infancy."},"zh":{"name":"孤立性无丙种球蛋白血症","synonyms":["孤立性低丙种球蛋白血症"],"definition":"孤立性无丙种球蛋白血症（IA）是无丙种球蛋白血症的一种非综合征形式，是一种原发性免疫缺陷疾病，其特点是缺乏丙种球蛋白，并容易从婴儿期开始出现频繁和反复感染。"},"tr":{"name":"İzole agamaglobulinemi","synonyms":["İzole hipogamaglobulinemi"]}},"xrefs":[{"source":"OMIM","code":"300310","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"300755","qualifier":"BTNT","icd_relation":null,"validated":true},{"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":"ICD-10","code":"D80.0","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"4A01.00","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1542057289"},{"source":"MONDO","code":"0016462","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4707181","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":183669,"name":"Agammaglobulinemia","classifications":[156,195]},{"orpha":717757,"name":"Rare immune disease with inflammatory bowel disease","classifications":[152,156,233]}],"children":[{"orpha":33110,"name":"Autosomal non-syndromic agammaglobulinemia","type":"Clinical subtype"},{"orpha":47,"name":"X-linked agammaglobulinemia","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"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"],"via":{"orpha":33110,"name":"Autosomal non-syndromic agammaglobulinemia"}},{"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"],"via":{"orpha":47,"name":"X-linked agammaglobulinemia"}},{"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"],"via":{"orpha":33110,"name":"Autosomal non-syndromic agammaglobulinemia"}},{"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"],"via":{"orpha":33110,"name":"Autosomal non-syndromic agammaglobulinemia"}},{"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"],"via":{"orpha":33110,"name":"Autosomal non-syndromic agammaglobulinemia"}},{"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"],"via":{"orpha":33110,"name":"Autosomal non-syndromic agammaglobulinemia"}},{"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"],"via":{"orpha":33110,"name":"Autosomal non-syndromic agammaglobulinemia"}},{"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"],"via":{"orpha":33110,"name":"Autosomal non-syndromic agammaglobulinemia"}},{"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"],"via":{"orpha":33110,"name":"Autosomal non-syndromic agammaglobulinemia"}},{"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"],"via":{"orpha":33110,"name":"Autosomal non-syndromic agammaglobulinemia"}},{"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"],"via":{"orpha":33110,"name":"Autosomal non-syndromic agammaglobulinemia"}}],"inheritance":["Autosomal dominant","Autosomal recessive","X-linked recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.3,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0004332","label":"Abnormal lymphocyte morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","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:0002721","label":"Immunodeficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100533","label":"Inflammatory abnormality of the eye","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000388","label":"Otitis media","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100838","label":"Recurrent cutaneous abscess formation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","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:0001874","label":"Abnormality of neutrophils","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100763","label":"Abnormality of the lymphatic system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002090","label":"Pneumonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100765","label":"Abnormality of the tonsils","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001369","label":"Arthritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002960","label":"Autoimmunity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100658","label":"Cellulitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001864","label":"Clinodactyly of the 5th toe","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:0004322","label":"Short stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Occasional (29-5%)","criteria":null}]}}