{"orpha":99854,"name":"Cree leukoencephalopathy","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":"This disease is described under CACH syndrome","url":"https://raremap.alftech.space/d/ORPHA-99854/","orphanet_url":"https://www.orpha.net/en/disease/detail/99854","names":{"fr":{"name":"Leucoencéphalopathie crie"},"de":{"name":"Cree-Leukoenzephalopathie"},"es":{"name":"Leucoencefalopatía de Cree"},"it":{"name":"Leucoencefalopatia di Cree"},"nl":{"name":"Cree-leuko-encefalopathie"},"pt":{"name":"Leucoencefalopatia de Cree"},"pl":{"name":"Leukoencefalopatia Cree'a"},"cs":{"name":"Kríjská leukoencefalopatie"},"uk":{"name":"Лейкоенцефалопатія племені Кри"},"zh":{"name":"印第安人脑白质病"},"tr":{"name":"Cree lökoensefalopati"}},"xrefs":[{"source":"OMIM","code":"603896","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E75.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A44.3","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1221321625"}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":135,"name":"CACH syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"EIF2B1","name":"eukaryotic translation initiation factor 2B subunit alpha","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301435[PMID]_15136673[PMID]","hgnc":"3257","ensembl":"ENSG00000111361","omim":"606686","loci":["12q24.31"]},{"symbol":"EIF2B2","name":"eukaryotic translation initiation factor 2B subunit beta","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301435[PMID]_15136673[PMID]","hgnc":"3258","ensembl":"ENSG00000119718","omim":"606454","loci":["14q24.3"]},{"symbol":"EIF2B3","name":"eukaryotic translation initiation factor 2B subunit gamma","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301435[PMID]_15136673[PMID]","hgnc":"3259","ensembl":"ENSG00000070785","omim":"606273","loci":["1p34.1"]},{"symbol":"EIF2B4","name":"eukaryotic translation initiation factor 2B subunit delta","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301435[PMID]_15136673[PMID]","hgnc":"3260","ensembl":"ENSG00000115211","omim":"606687","loci":["2p23.3"]},{"symbol":"EIF2B5","name":"eukaryotic translation initiation factor 2B subunit epsilon","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301435[PMID]_15136673[PMID]","hgnc":"3261","ensembl":"ENSG00000145191","omim":"603945","loci":["3q27.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}