{"orpha":595109,"name":"Atypical Timothy syndrome","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["ATS","Atypical LQT8"],"definition":null,"note":"This disease is described under Timothy syndrome","url":"https://raremap.alftech.space/d/ORPHA-595109/","orphanet_url":"https://www.orpha.net/en/disease/detail/595109","names":{"fr":{"name":"Syndrome de Timothy atypique","synonyms":["ATS","LQT8 atypique"]},"de":{"name":"Timothy -Syndrom, atypisches","synonyms":["ATS","LQT8, atypisches"]},"es":{"name":"Síndrome de Timothy atípico","synonyms":["LQT8 atípico"]},"it":{"name":"Sindrome di Timothy atipica","synonyms":["ATS","LQT8 atipica"]},"nl":{"name":"Atypisch syndroom van Timothy","synonyms":["ATS","Atypisch LQT8"]},"pt":{"name":"Síndrome Timothy atípico","synonyms":["ATS","LQT8 atípico"]},"pl":{"name":"Zespół Timothy atypowy","synonyms":["LQT8 atypowy"]},"cs":{"name":"Atypický syndrom Timothyové","synonyms":["ATS","Atypical LQT8"]},"uk":{"name":"Атиповий синдром Тимоті","synonyms":["ATS","Атиповий LQT8"]},"zh":{"name":"Atypical Timothy syndrome","synonyms":["ATS","Atypical LQT8"]},"tr":{"name":"Atypical Timothy syndrome","synonyms":["ATS","Atypical LQT8"]}},"xrefs":[{"source":"ICD-10","code":"I49.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"BC65.0","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0021172","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5575746","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97929,"name":"Rare cardiac disease"},"parents":[{"orpha":65283,"name":"Timothy syndrome","classifications":[146,156,181]}],"children":[],"genes":[{"symbol":"CACNA1C","name":"calcium voltage-gated channel subunit alpha1 C","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"34079780[PMID]","hgnc":"1390","ensembl":"ENSG00000151067","omim":"114205","loci":["12p13.33"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Neonatal"],"prevalence":[],"phenotypes":null}