{"orpha":99853,"name":"Ovarioleukodystrophy","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-99853/","orphanet_url":"https://www.orpha.net/en/disease/detail/99853","names":{"fr":{"name":"Ovarioleucodystrophie"},"de":{"name":"Ovarioleukodystrophie"},"es":{"name":"Ovarioleucodistrofia"},"it":{"name":"Ovaioleucodistrofia"},"nl":{"name":"Ovarioleukodystrofie"},"pt":{"name":"Ovarioleucodistrofia"},"pl":{"name":"Leukodystrofia z niedoczynnością jajników / Owarioleukodystrofia"},"cs":{"name":"Ovarioleukodystrofie"},"uk":{"name":"Оваріолейкодистрофія"},"zh":{"name":"卵巢-脑白质营养不良症"},"tr":{"name":"Yumurtalık lökodistrofisi"}},"xrefs":[{"source":"OMIM","code":"603896","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615889","qualifier":"BTNT","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":"1823072890"},{"source":"UMLS","code":"C1847967","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10089277","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":135,"name":"CACH syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"AARS2","name":"alanyl-tRNA synthetase 2, mitochondrial","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"24808023[PMID]","hgnc":"21022","ensembl":"ENSG00000124608","omim":"612035","loci":["6p21.1"]},{"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":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":17.0,"area":"Worldwide","status":"Validated","source":"24808023[PMID]_12707859[PMID]_9153528[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24808023[PMID]_12707859[PMID]_9153528[PMID]"}],"phenotypes":null}