{"orpha":716816,"name":"Congenital myasthenic syndrome with primary acetylcholine receptor deficiency","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["CMS with primary AChR deficiency","CMS with primary acetylcholine receptor deficiency","Primary AChR deficiency","Primary acetylcholine receptor deficiency"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-716816/","orphanet_url":"https://www.orpha.net/en/disease/detail/716816","names":{"fr":{"name":"Syndrome myasthénique congénital avec déficit primaire en récepteur de l'acétylcholine","synonyms":["Déficit primaire en RACh","Déficit primaire en récepteur à l'acétylcholine"]},"de":{"name":"Kongenitales myasthenes Syndrom mit primärem Acetylcholinrezeptor-Mangel","synonyms":["CMS mit primärem AChR-Mangel","Kongenitales Myastheniesyndrom mit primärer Acetylcholinrezeptor-Defizienz","Primärer Acetylcholin-Rezeptor-Mangel","Primäres AChR-Defizit"]},"es":{"name":"Síndrome miasténico congénito con deficiencia primaria del receptor de acetilcolina","synonyms":["Deficiencia primaria de AChR","Deficiencia primaria del receptor de acetilcolina","SMC con deficiencia primaria de AChR","SMC con deficiencia primaria del receptor de acetilcolina"]},"it":{"name":"Sindrome miastenica congenita con deficit primario dei recettori dell'acetilcolina","synonyms":["CMS con deficit primario di AChR","Deficit primario del recettore dell'acetilcolina","CMS con deficit primario del recettore dell'acetilcolina","Deficit primario di AChR","SMC con deficit primitivo di AChR","SMC con deficit primitivo del recettore dell'acetilcolina","Deficit primitivo di AChR","Deficit primitivo del recettore dell'acetilcolina"]},"nl":{"name":"Congenitaal myastheen syndroom met primaire deficiëntie van acetylcholinereceptor","synonyms":["CMS met primaire AChR-deficiëntie","CMS met primaire deficiëntie van acetylcholinereceptor","Primaire AChR-deficiëntie","Primaire deficiëntie van acetylcholinereceptor"]},"pt":{"name":"Congenital myasthenic syndromes with primary acetylcholine receptor deficiency"},"pl":{"name":"Wrodzone zespoły miasteniczne z pierwotnym niedoborem receptora acetylocholiny","synonyms":["CMS with primary AChR deficiency","CMS with primary acetylcholine receptor deficiency","Primary AChR deficiency","Primary acetylcholine receptor deficiency"]},"cs":{"name":"Congenital myasthenic syndrome with primary acetylcholine receptor deficiency","synonyms":["CMS with primary AChR deficiency","CMS with primary acetylcholine receptor deficiency","Primary AChR deficiency","Primary acetylcholine receptor deficiency"]}},"xrefs":[{"source":"OMIM","code":"608931","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616314","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616323","qualifier":"BTNT","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":98913,"name":"Postsynaptic congenital myasthenic syndrome","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) in","status":"Assessed","source":"36634413[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) in","status":"Assessed","source":"10562302[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) in","status":"Assessed","source":"16916845[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) in","status":"Assessed","source":"10211467[PMID]","hgnc":"1966","ensembl":"ENSG00000108556","omim":"100725","loci":["17p13.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}