{"orpha":716765,"name":"Slow-channel congenital myasthenic syndrome","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["SCCMS","SCS","Slow-channel syndrome"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-716765/","orphanet_url":"https://www.orpha.net/en/disease/detail/716765","names":{"fr":{"name":"Syndrome myasthénique congénital du canal lent","synonyms":["SCS","Syndrome du canal lent"]},"de":{"name":"Myasthenie-Syndrom, kongenitales, slow-channel","synonyms":["SCCMS","SCS","Slow-Channel-Syndrom"]},"es":{"name":"Síndrome miasténico congénito del canal lento","synonyms":["SMC del canal lento","Síndrome del canal lento"]},"it":{"name":"Sindrome miastenica congenita del canale lento","synonyms":["SCCMS","SCS","Sindrome del canale lento"]},"nl":{"name":"Congenitaal myastheen syndroom door traag kanaal","synonyms":["CMS door traag kanaal","SCCMS","SCS","'Slow channel'-syndroom","Congenitaal myastheen syndroom door te traag werkend kanaal"]},"pt":{"name":"Slow-channel congenital myasthenic syndromes"},"pl":{"name":"Wrodzone zespoły miasteniczne z wolnym kanałem","synonyms":["SCCMS","SCS","Slow-channel syndrome"]},"cs":{"name":"Slow-channel congenital myasthenic syndrome","synonyms":["SCCMS","SCS","Slow-channel syndrome"]}},"xrefs":[{"source":"OMIM","code":"601462","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"605809","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616313","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616321","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) (loss 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) (loss 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) (loss 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) (loss 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}