{"orpha":723146,"name":"Hyper-IgM syndrome due to INO80 deficiency","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["HIGM due to INO80 deficiency","Hyper-IgM syndrome due to INO80 complex ATPase subunit deficiency"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-723146/","orphanet_url":"https://www.orpha.net/en/disease/detail/723146","names":{"fr":{"name":"Syndrome hyper-IgM par déficit en INO80","synonyms":["Syndrome hyper-IgM par déficit en protéine INO80 complex ATPase subunit","HIGM par déficit en INO80"]},"de":{"name":"Hyper-IgM-Syndrom durch INO80-Mangel","synonyms":["HIGM durch INO80-Defizienz","Hyper-IgM-Syndrom durch Mangel der ATPase-Untereinheit des INO80-Komplexes"]},"es":{"name":"Síndrome de hiper-IgM por deficiencia de INO80","synonyms":["HIGM por deficiencia de INO80","Síndrome de hiper-IgM por deficiencia de la subunidad ATPasa del complejo INO80"]},"it":{"name":"Sindrome iper-IgM da deficit di INO80","synonyms":["HIGM da deficit di INO80","Sindrome iper-IgM da deficit della subunità ATPasi del complesso INO80"]},"nl":{"name":"Hyper-IgM-syndroom door INO80-deficiëntie","synonyms":["HIGM door INO80-deficiëntie","Hyper-IgM-syndroom door deficiëntie van 'INO80 complex ATPase subunit'","Hyper-IgM-syndroom door deficiëntie van ATPase-subeenheid van INO80-complex"]},"pt":{"name":"Hyper-IgM syndrome due to INO80 deficiency"},"pl":{"name":"Hyper-IgM syndrome due to INO80 deficiency","synonyms":["HIGM due to INO80 deficiency","Hyper-IgM syndrome due to INO80 complex ATPase subunit deficiency"]},"cs":{"name":"Hyper-IgM syndrome due to INO80 deficiency","synonyms":["HIGM due to INO80 deficiency","Hyper-IgM syndrome due to INO80 complex ATPase subunit deficiency"]}},"xrefs":[],"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":"INO80","name":"INO80 complex ATPase subunit","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25312759[PMID]","hgnc":"26956","ensembl":"ENSG00000128908","omim":"610169","loci":["15q15.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"25312759[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"25312759[PMID]_ORPHANET"}],"phenotypes":null}