{"orpha":716908,"name":"Autosomal dominant congenital myasthenic syndrome due to defective synaptic vesicles exocytosis","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Autosomal dominant CMS due to defective synaptic vesicles exocytosis"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-716908/","orphanet_url":"https://www.orpha.net/en/disease/detail/716908","names":{"fr":{"name":"Syndrome myasthénique congénital autosomique dominant par défaut d'exocytose des vésicules synaptiques","synonyms":["SMC autosomique dominant par défaut d'exocytose des vésicules synaptiques"]},"de":{"name":"Autosmal-dominantes kongenitales myasthenes Syndrom durch gestörte Exozytose der synaptischen Bläschen","synonyms":["Autosmal-dominantes CMS durch defekte Exozytose synaptischer Vesikel"]},"es":{"name":"Síndrome miasténico congénito autosómico dominante por defectos en la exocitosis de las vesículas sinápticas","synonyms":["SMC autosómico dominante por defectos en la exocitosis de las vesículas sinápticas"]},"it":{"name":"Sindrome miastenica congenita autosomica dominante da difetto nell'esocitosi delle vescicole sinaptiche","synonyms":["SMC autosomiche dominanti da difetti nell'esocitosi delle vescicole sinaptiche","CMS autosomica dominante da difetto nell'esocitosi delle vescicole sinaptiche"]},"nl":{"name":"Autosomaal dominant congenitaal myastheen syndroom door defect van exocytose van synaptische vesikels","synonyms":["Autosomaal dominant CMS door defect van exocytose van synaptische vesikels","Autosomaal dominant CMS door defect in exocytose van synaptische vesikels"]},"pt":{"name":"Autosomal dominant congenital myasthenic syndromes due to defective synaptic vesicles exocytosis"},"pl":{"name":"Wrodzone zespoły miasteniczne dziedziczone autosomalnie dominująco z powodu wadliwej egzocytozy pęcherzyków synaptycznych","synonyms":["Autosomal dominant CMS due to defective synaptic vesicles exocytosis"]},"cs":{"name":"Autosomal dominant congenital myasthenic syndrome due to defective synaptic vesicles exocytosis","synonyms":["Autosomal dominant CMS due to defective synaptic vesicles exocytosis"]}},"xrefs":[{"source":"OMIM","code":"616040","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":716899,"name":"Congenital myasthenic syndrome due to defective synaptic vesicles exocytosis","classifications":[147,156,181,189]}],"children":[],"genes":[{"symbol":"SYT2","name":"synaptotagmin 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25192047[PMID]","hgnc":"11510","ensembl":"ENSG00000143858","omim":"600104","loci":["1q32.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":null}