{"orpha":716758,"name":"Fast-channel congenital myasthenic syndrome","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["FCCMS","FCS","Fast-channel syndrome"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-716758/","orphanet_url":"https://www.orpha.net/en/disease/detail/716758","names":{"fr":{"name":"Syndrome myasthénique congénital du canal rapide","synonyms":["FCS","Syndrome du canal rapide"]},"de":{"name":"Myasthenie-Syndrom, kongenitales, fast-channel","synonyms":["FCCMS","FCS","Fast-Channel-Syndrom"]},"es":{"name":"Síndrome miasténico congénito del canal rápido","synonyms":["SMC del canal rápido","Síndrome del canal rápido"]},"it":{"name":"Sindrome miastenica congenita del canale rapido","synonyms":["Sindrome del canale rapido","FCCMS","FCS","Sindromi del canale rapido"]},"nl":{"name":"Congenitaal myastheen syndroom door snel kanaal","synonyms":["FCCMS","FCS","'Fast channel'-syndroom","Congenitaal myastheen syndroom door te snel werkend kanaal"]},"pt":{"name":"Fast-channel congenital myasthenic syndromes"},"pl":{"name":"Wrodzone zespoły miasteniczne z szybkim kanałem","synonyms":["FCCMS","FCS","Fast-channel syndrome"]},"cs":{"name":"Fast-channel congenital myasthenic syndrome","synonyms":["FCCMS","FCS","Fast-channel syndrome"]}},"xrefs":[{"source":"OMIM","code":"608930","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616322","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616324","qualifier":"BTNT","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":716742,"name":"Congenital myasthenic syndrome with kinetic defect","classifications":[147,156,181,189]}],"children":[],"genes":[{"symbol":"CHRNA1","name":"cholinergic receptor nicotinic alpha 1 subunit","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"20301347[PMID]","hgnc":"1955","ensembl":"ENSG00000138435","omim":"100690","loci":["2q31.1"]},{"symbol":"CHRNB1","name":"cholinergic receptor nicotinic beta 1 subunit","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"20301347[PMID]","hgnc":"1961","ensembl":"ENSG00000170175","omim":"100710","loci":["17p13.1"]},{"symbol":"CHRND","name":"cholinergic receptor nicotinic delta subunit","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"20301347[PMID]","hgnc":"1965","ensembl":"ENSG00000135902","omim":"100720","loci":["2q37.1"]},{"symbol":"CHRNE","name":"cholinergic receptor nicotinic epsilon subunit","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"20301347[PMID]","hgnc":"1966","ensembl":"ENSG00000108556","omim":"100725","loci":["17p13.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}