{"orpha":719914,"name":"Congenital myasthenic syndrome due to defective nuclear membrane protein","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["CMS due to defective nuclear membrane protein"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-719914/","orphanet_url":"https://www.orpha.net/en/disease/detail/719914","names":{"fr":{"name":"Syndrome myasthénique congénital dû à une protéine défectueuse de la membrane nucléaire","synonyms":["SMC dû à une protéine défectueuse de la membrane nucléaire"]},"de":{"name":"Kongenitales myasthenes Syndrom durch LAMIN-assoziiertes Protein 1-Mangel","synonyms":["TOR1AIP1-assoziiertes CMS"]},"es":{"name":"Síndrome miasténico congénito por defecto en la proteína de la membrana nuclear","synonyms":["SMC por defecto en la proteína de la membrana nuclear"]},"it":{"name":"Sindrome miastenica congenita da difetto della proteina della membrana nucleare","synonyms":["CMS da difetto della proteina della membrana nucleare"]},"nl":{"name":"Congenitaal myastheen syndroom door defect van kernmembraaneiwit","synonyms":["CMS door defect van kernmembraaneiwit"]},"pt":{"name":"Congenital myasthenic syndrome due to defective nuclear membrane protein"},"pl":{"name":"Congenital myasthenic syndrome due to defective nuclear membrane protein","synonyms":["CMS due to defective nuclear membrane protein"]},"cs":{"name":"Congenital myasthenic syndrome due to defective nuclear membrane protein","synonyms":["CMS due to defective nuclear membrane protein"]}},"xrefs":[],"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":"TOR1AIP1","name":"torsin 1A interacting protein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"33215087[PMID]","hgnc":"29456","ensembl":"ENSG00000143337","omim":"614512","loci":["1q25.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}