{"orpha":719880,"name":"Congenital myasthenic syndrome due to acetylcholine receptor clustering defect","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["CMS due to acetylcholine receptor clustering defect"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-719880/","orphanet_url":"https://www.orpha.net/en/disease/detail/719880","names":{"fr":{"name":"Syndrome myasthénique congénital par défaut de regroupement des récepteurs de l'acétylcholine","synonyms":["SMC par défaut de regroupement des récepteurs de l'acétylcholine"]},"de":{"name":"Kongenitales myasthenes Syndrom durch Acetylcholinrezeptor-Mangel","synonyms":["RAPSN-assoziiertes CMS","CMS durch AChR-Defizienz"]},"es":{"name":"Síndrome miasténico congénito por defecto de agrupación de receptores de acetilcolina","synonyms":["SMC por defecto de agrupación de receptores de acetilcolina"]},"it":{"name":"Sindrome miastenica congenita da difetto del raggruppamento dei recettori dell'acetilcolina","synonyms":["CMS da difetto del raggruppamento dei recettori dell'acetilcolina"]},"nl":{"name":"Congenitaal myastheen syndroom door clusteringdefect van acetylcholinereceptor","synonyms":["CMS door clusteringdefect van acetylcholinereceptor"]},"pt":{"name":"Congenital myasthenic syndrome due to defects in acetylcholine receptor clustering"},"pl":{"name":"Congenital myasthenic syndrome due to acetylcholine receptor clustering defect","synonyms":["CMS due to acetylcholine receptor clustering defect"]},"cs":{"name":"Congenital myasthenic syndrome due to acetylcholine receptor clustering defect","synonyms":["CMS due to acetylcholine receptor clustering defect"]}},"xrefs":[{"source":"OMIM","code":"616326","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":"AK9","name":"adenylate kinase 9","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27966543[PMID]","hgnc":"33814","ensembl":"ENSG00000155085","omim":"615358","loci":["6q21"]},{"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":"RAPSN","name":"receptor associated protein of the synapse","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301347[PMID]","hgnc":"9863","ensembl":"ENSG00000165917","omim":"601592","loci":["11p11.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}