{"orpha":101092,"name":"Hyper-IgM syndrome type 5","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["HIGM5","Hyper-IgM syndrome due to UNG deficiency","Hyper-IgM syndrome due to uracil N-glycosylase"],"definition":null,"note":"This disease is described under Hyper-IgM syndrome without susceptibility to opportunistic infections","url":"https://raremap.alftech.space/d/ORPHA-101092/","orphanet_url":"https://www.orpha.net/en/disease/detail/101092","names":{"fr":{"name":"Syndrome hyper-IgM type 5","synonyms":["HIGM5","Syndrome hyper-IgM par déficit en UNG","Syndrome hyper-IgM par déficit en uracile N-glycosylase"]},"de":{"name":"Hyper-IgM-Syndrom Typ 5","synonyms":["HIGM5","Hyper-IgM syndrome durch Uracil-N-Glycosylase-Mangel","Hyper-IgM-Syndrom durch UNG-Mangel"]},"es":{"name":"Síndrome de hiper-IgM tipo 5","synonyms":["HIGM5","Síndrome de hiper-IgM por deficiencia de UNG","Síndrome de hiper-IgM por deficiencia de uracil N glicosilasa"]},"it":{"name":"Sindrome iper-IgM, tipo 5","synonyms":["HIGM5","Sindrome iper-IgM da deficit di UNG","Sindrome iper-IgM da deficit di uracil-N-glicosilasi"]},"nl":{"name":"Hyper-IgM-syndroom type 5","synonyms":["HIGM5","Hyper-IgM-syndroom door UNG-deficiëntie","Hyper-IgM-syndroom door uracil N-glycosylase"]},"pt":{"name":"Síndrome hiper-IgM tipo 5"},"pl":{"name":"Zespół hiper-IgM typu 5","synonyms":["HIGM5","Zespół hiper-IgM z powodu niedoboru UNG","Zespół hiper-IgM z powodu niedoboru uracylo N glikozylazy"]},"cs":{"name":"Hyper-IgM syndrom, typ 5","synonyms":["HIGM5","Syndrom hyperimunoglobulinemie IgM, typ 5","Hyper-IgM syndrom způsobený deficitem UNG","Hyper-IgM syndrom způsobený uracil N-glykosylázou"]},"uk":{"name":"Синдром гіпер-IgM, тип 5","synonyms":["HIGM5","Синдром гіпер-IgM через дефіцит UNG","Синдром гіпер-IgM через урацилову N-глікозилазу"]},"zh":{"name":"高IgM综合征5型","synonyms":["尿嘧啶DNA糖基酶所致高IgM综合征"]},"tr":{"name":"Hiper-IgM sendromu tip 5","synonyms":["HIGM5","UNG eksikliğine bağlı hiper IgM sendromu","Urasil N-glikosilaza bağlı hiper-IgM sendromu"]}},"xrefs":[{"source":"OMIM","code":"608106","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D80.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A01.05","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"492472329"},{"source":"MONDO","code":"0011971","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1720958","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10581","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":183666,"name":"Hyper-IgM syndrome without susceptibility to opportunistic infections","classifications":[156,195,233]}],"children":[],"genes":[{"symbol":"UNG","name":"uracil DNA glycosylase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"12958596[PMID]_15967827[PMID]","hgnc":"12572","ensembl":"ENSG00000076248","omim":"191525","loci":["12q24.11"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}