{"orpha":716893,"name":"Congenital myasthenic syndrome due to defective synthesis or recycling of acetylcholine","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["CMS due to defective synthesis or recycling of ACh"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-716893/","orphanet_url":"https://www.orpha.net/en/disease/detail/716893","names":{"fr":{"name":"Syndrome myasthénique congénital dû à un défaut de synthèse ou de recyclage de l'acétylcholine"},"de":{"name":"Kongenitales myasthenes Syndrom durch gestörte Synthese oder gestörtes Recycling von Acetylcholin","synonyms":["Kongenitales Myastheniesyndrom durch gestörte Synthese oder Wiederverwertung von ACh"]},"es":{"name":"Síndrome miasténico congénito por defectos de la síntesis o reciclaje de acetilcolina","synonyms":["SMC por defectos de la síntesis o reciclaje de Ach"]},"it":{"name":"Sindrome miastenica congenita da difetti nella sintesi o nel riciclo dell'acetilcolina","synonyms":["CMS da difetti nella sintesi o nel riciclo dell'Ach","SMC da difetti nella sintesi o nel riciclo di ACh"]},"nl":{"name":"Congenitaal myastheen syndroom door defect van synthese of recycling van acetylcholine","synonyms":["CMS door defect van synthese of recycling van ACh"]},"pt":{"name":"Congenital myasthenic syndromes due to defective synthesis or recycling of acetylcholine"},"pl":{"name":"Wrodzone zespoły miasteniczne spowodowane defektem syntezy lub recyklingu acetylocholiny","synonyms":["CMS due to defective synthesis or recycling of ACh"]},"cs":{"name":"Congenital myasthenic syndrome due to defective synthesis or recycling of acetylcholine","synonyms":["CMS due to defective synthesis or recycling of ACh"]}},"xrefs":[{"source":"OMIM","code":"254210","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616224","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617143","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617239","qualifier":"BTNT","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":98914,"name":"Presynaptic congenital myasthenic syndrome","classifications":[147,156,181,189]}],"children":[],"genes":[{"symbol":"SLC5A7","name":"solute carrier family 5 member 7","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"27569547[PMID]","hgnc":"14025","ensembl":"ENSG00000115665","omim":"608761","loci":["2q12.3"]},{"symbol":"CHAT","name":"choline O-acetyltransferase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20301347[PMID]","hgnc":"1912","ensembl":"ENSG00000070748","omim":"118490","loci":["10q11.23"]},{"symbol":"PREPL","name":"prolyl endopeptidase like","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24610330[PMID]_28726805[PMID]","hgnc":"30228","ensembl":"ENSG00000138078","omim":"609557","loci":["2p21"]},{"symbol":"SLC18A3","name":"solute carrier family 18 member A3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27590285[PMID]","hgnc":"10936","ensembl":"ENSG00000187714","omim":"600336","loci":["10q11.23"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}