{"orpha":716903,"name":"Autosomal recessive congenital myasthenic syndrome due to defective synaptic vesicles exocytosis","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Autosomal recessive CMS due to defective synaptic vesicles exocytosis"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-716903/","orphanet_url":"https://www.orpha.net/en/disease/detail/716903","names":{"fr":{"name":"Syndrome myasthénique congénital dû à un defaut d'exocytose des vésicules synaptiques autosomique récessif"},"de":{"name":"Autosmal-rezessives kongenitales myasthenes Syndrom durch gestörte Exozytose der synaptischen Bläschen","synonyms":["Autosmal-rezessives CMS durch defekte Exozytose synaptischer Vesikel"]},"es":{"name":"Síndrome miasténico congénito autosómico recesivo por defectos en la exocitosis de las vesículas sinápticas","synonyms":["SMC autosómico recesivo por defectos en la exocitosis de las vesículas sinápticas"]},"it":{"name":"Sindrome miastenica congenita autosomica recessiva da difetto nell'esocitosi delle vescicole sinaptiche","synonyms":["SMC autosomiche recessive da difetti nell'esocitosi delle vescicole sinaptiche","CMS autosomica recessiva da difetto nell'esocitosi delle vescicole sinaptiche"]},"nl":{"name":"Autosomaal recessief congenitaal myastheen syndroom door defect van exocytose van synaptische vesikels","synonyms":["Autosomaal recessief CMS door defect in exocytose van synaptische vesikels","Autosomaal recessief CMS door defect van exocytose van synaptische vesikels"]},"pt":{"name":"Autosomal recessive congenital myasthenic syndromes due to defective synaptic vesicles exocytosis"},"pl":{"name":"Wrodzone zespoły miasteniczne dziedziczone autosomalnie recesywnie z powodu wadliwej egzocytozy pęcherzyków synaptycznych","synonyms":["Autosomal recessive CMS due to defective synaptic vesicles exocytosis"]},"cs":{"name":"Autosomal recessive congenital myasthenic syndrome due to defective synaptic vesicles exocytosis","synonyms":["Autosomal recessive CMS due to defective synaptic vesicles exocytosis"]}},"xrefs":[{"source":"OMIM","code":"616330","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618323","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619461","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"621455","qualifier":"NTBT","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) (loss of function) in","status":"Assessed","source":"32776697[PMID]","hgnc":"11510","ensembl":"ENSG00000143858","omim":"600104","loci":["1q32.1"]},{"symbol":"LAMA5","name":"laminin subunit alpha 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29377152[PMID]","hgnc":"6485","ensembl":"ENSG00000130702","omim":"601033","loci":["20q13.33"]},{"symbol":"RPH3A","name":"rabphilin 3A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29441694[PMID]","hgnc":"17056","ensembl":"ENSG00000089169","omim":"612159","loci":["12q24.13"]},{"symbol":"SNAP25","name":"synaptosome associated protein 25","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25381298[PMID]_25792100[PMID]","hgnc":"11132","ensembl":"ENSG00000132639","omim":"600322","loci":["20p12.2"]},{"symbol":"UNC13A","name":"unc-13 homolog A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"41125872[PMID]","hgnc":"23150","ensembl":"ENSG00000130477","omim":"609894","loci":["19p13.11"]},{"symbol":"VAMP1","name":"vesicle associated membrane protein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28253535[PMID]","hgnc":"12642","ensembl":"ENSG00000139190","omim":"185880","loci":["12p13.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}