{"orpha":101090,"name":"Hyper-IgM syndrome type 3","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["HIGM3","Hyper-IgM syndrome due to CD40 deficiency"],"definition":null,"note":"This disease is described under Hyper-IgM syndrome with susceptibility to opportunistic infections","url":"https://raremap.alftech.space/d/ORPHA-101090/","orphanet_url":"https://www.orpha.net/en/disease/detail/101090","names":{"fr":{"name":"Syndrome hyper-IgM type 3","synonyms":["HIGM3","Syndrome hyper-IgM par déficit en CD40"]},"de":{"name":"Hyper-IgM-Syndrom Typ 3","synonyms":["HIGM3","Hyper-IgM-Syndrom durch CD40-Mangel"]},"es":{"name":"Síndrome de hiper-IgM tipo 3","synonyms":["HIGM3","Síndrome de hiper-IgM por deficiencia de CD40"]},"it":{"name":"Sindrome iper-IgM, tipo 3","synonyms":["HIGM3","Sindrome iper-IgM da deficit di CD40"]},"nl":{"name":"Hyper-IgM-syndroom type 3","synonyms":["HIGM3","Hyper-IgM-syndroom door CD40-deficiëntie"]},"pt":{"name":"Síndrome hiper-IgM tipo 3"},"pl":{"name":"Zespół hiper-IgM typu 3","synonyms":["HIGM3","Zespół hiper-IgM z powodu niedoboru CD40"]},"cs":{"name":"Hyper-IgM syndrom, typ 3","synonyms":["HIGM3","Syndrom hyperimunoglobulinemie IgM, typ 3","Hyper-IgM syndrom způsobený deficitem CD40"]},"uk":{"name":"Синдром гіпер-IgM, тип 3","synonyms":["HIGM3","Синдром гіпер-IgM через дефіцит CD40"]},"zh":{"name":"高IgM综合征3型","synonyms":["CD40缺陷所致高IgM综合征"]},"tr":{"name":"Hiper-IgM sendromu tip 3","synonyms":["HIGM3","CD40 eksikliğine bağlı hiper-IgM sendromu"]}},"xrefs":[{"source":"OMIM","code":"606843","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D80.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A01.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1381161550"},{"source":"MONDO","code":"0011735","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1720957","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10579","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":183663,"name":"Hyper-IgM syndrome with susceptibility to opportunistic infections","classifications":[156,195,233]}],"children":[],"genes":[{"symbol":"CD40","name":"CD40 molecule","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"11675497[PMID]","hgnc":"11919","ensembl":"ENSG00000101017","omim":"109535","loci":["20q13.12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}