{"orpha":157719,"name":"Juvenile or adult CACH syndrome","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-157719/","orphanet_url":"https://www.orpha.net/en/disease/detail/157719","names":{"fr":{"name":"Syndrome CACH juvénile ou de l'adulte"},"de":{"name":"CACH-Syndrom, juvenile oder adulte Form"},"es":{"name":"Síndrome CACH, forma adulta o juvenil"},"it":{"name":"Sindrome CACH, forma giovanile o adulta"},"nl":{"name":"Juveniele of volwassen CACH-syndroom"},"pt":{"name":"Síndrome CACH juvenil ou do adulto"},"pl":{"name":"Zespół CACH młodzieńczy lub dorosłych"},"cs":{"name":"Juvenilní nebo adultní CACH syndrom"},"uk":{"name":"Ювенільний або дорослий синдром CACH"},"zh":{"name":"青少年或成人CACH综合征"},"tr":{"name":"Juvenil veya yetişkin CACH sendromu"}},"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":"1400114953"},{"source":"MONDO","code":"0015521","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680649","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":"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]","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]","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]","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]","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]","hgnc":"3261","ensembl":"ENSG00000145191","omim":"603945","loci":["3q27.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Adult"],"prevalence":[],"phenotypes":null}