{"orpha":101088,"name":"X-linked hyper-IgM syndrome","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["HIGM1","Hyper-IgM syndrome due to CD40 ligand deficiency","Hyper-IgM syndrome due to CD40L deficiency","Hyper-IgM syndrome type 1","XHIGM"],"definition":null,"note":"This disease is described under Hyper-IgM syndrome with susceptibility to opportunistic infections","url":"https://raremap.alftech.space/d/ORPHA-101088/","orphanet_url":"https://www.orpha.net/en/disease/detail/101088","names":{"fr":{"name":"Syndrome hyper-IgM lié à l'X","synonyms":["HIGM1","Syndrome hyper-IgM par déficit en CD40L","Syndrome hyper-IgM par déficit en ligand de CD40","Syndrome hyper-IgM type 1","XHIGM"]},"de":{"name":"Hyper-IgM-Syndrom, X-chromosomales","synonyms":["HIGM1","Hyper-IgM-Syndrom Typ 1","Hyper-IgM-Syndrom durch CD40-Liganden-Mangel","XHIGM"]},"es":{"name":"Síndrome de hiper-IgM ligado al cromosoma X","synonyms":["HIGM1","Síndrome de hiper-IgM por deficiencia de CD40L","Síndrome de hiper-IgM por deficiencia del ligando de CD40","Síndrome de hiper-IgM tipo 1","XHIGM"]},"it":{"name":"Sindrome iper-IgM legata all'X","synonyms":["HIGM1","Sindrome iper-IgM da deficit del ligando CD40","Sindrome iper-IgM da deficit di CD40L","Sindrome iper-IgM, tipo 1","XHIGM"]},"nl":{"name":"X-gebonden hyper-IgM-syndroom","synonyms":["Hyper-IgM-syndroom type 1","XHIGM","HIGM1","Hyper-IgM-syndroom door CD40-liganddeficiëntie","Hyper-IgM-syndroom door CD40L-deficiëntie"]},"pt":{"name":"Síndrome hiper-IgM tipo 1"},"pl":{"name":"Zespół hiper-IgM sprzężony z chromosomem X","synonyms":["HIGM1","XHIGM","Zespół hiper-IgM typu 1","Zespół hiper-IgM z powodu niedoboru CD40L","Zespół hiper-IgM z powodu niedoboru ligandy CD40"]},"cs":{"name":"X-vázaný hyper-IgM syndrom","synonyms":["HIGM1","Hyper-IgM syndrom, typ 1","XHIGM","Syndrom hyperimunoglobulinemie IgM","Hyper-IgM syndrom způsobený deficitem CD40 ligandu","Hyper-IgM syndrom způsobený deficitem CD40L"]},"uk":{"name":"Х-зчеплений синдром гіпер-IgM","synonyms":["HIGM1","Синдром гіпер-IgM через дефіцит ліганду CD40","Синдром гіпер-IgM через дефіцит CD40L","Синдром гіпер-IgM, тип 1","XHIGM"]},"zh":{"name":"X连锁遗传高IgM综合征","synonyms":["CD41配体缺陷所致高lgM综合征"]},"tr":{"name":"X'e bağlı hiper IgM sendromu","synonyms":["HIGM1","XHIGM","Hiper-IgM sendromu tip 1","CD40L eksikliğine bağlı hiper-IgM sendromu","CD40 ligand eksikliğine bağlı hiper-IgM sendromu"]}},"xrefs":[{"source":"OMIM","code":"308230","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":"259869879"},{"source":"MONDO","code":"0010626","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D053307","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0398689","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"73","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]},{"orpha":717757,"name":"Rare immune disease with inflammatory bowel disease","classifications":[152,156,233]}],"children":[],"genes":[{"symbol":"CD40LG","name":"CD40 ligand","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"11935","ensembl":"ENSG00000102245","omim":"300386","loci":["Xq26.3"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":[],"prevalence":[],"phenotypes":null}