{"orpha":530303,"name":"Progressive dementia with neuroserpin inclusion bodies","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Late-onset familial encephalopathy with neuroserpin inclusion bodies"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-530303/","orphanet_url":"https://www.orpha.net/en/disease/detail/530303","names":{"fr":{"name":"Démence progressive à corps d'inclusion de neuroserpine","synonyms":["Encéphalopathie familiale à corps d'inclusion de neuroserpine à debut tardif"]},"de":{"name":"Progressive Demenz mit Neuroserpin-Einschlusskörperchen","synonyms":["Spät beginnende familiäre Enzephalopathie mit Neuroserpin-Einschlusskörperchen"]},"es":{"name":"Demencia progresiva con cuerpos de inclusión de neuroserpina","synonyms":["Encefalopatía familiar con cuerpos de inclusión de neuroserpina de inicio tardío"]},"it":{"name":"Demenza progressiva con corpi inclusi di neuroserpina"},"nl":{"name":"Progressieve dementie met neuroserpine-inclusielichamen","synonyms":["Laat aanvangende familiale encefalopathie met neuroserpine-inclusielichamen"]},"pt":{"name":"Demência progressiva com neuroserpina nos corpos de inclusão"},"pl":{"name":"Postępująca demencja z ciałkami inkluzyjnymi neuroserpiny","synonyms":["Late-onset familial encephalopathy with neuroserpin inclusion bodies"]},"cs":{"name":"Progresivní demence s neuroserpinovými inkluzivními tělísky","synonyms":["Familiární encefalopatie s pozdním nástupem s neuroserpinovými inkluzními tělísky"]},"uk":{"name":"Прогресуюча деменція з включеннями тілець нейросерпіну","synonyms":["Пізня сімейна енцефалопатія з нейросерпіновими тілами включення"]},"zh":{"name":"进行性痴呆伴神经源性丝氨酸蛋白酶抑制剂包涵体","synonyms":["晚发性家族性脑病伴有神经源性丝氨酸蛋白酶抑制剂包涵体"]},"tr":{"name":"Neuroserpin inklüzyon cisimcikleri ile seyreden ilerleyici demans","synonyms":["Nöroserpin inklüzyon organları ile seyreden geç başlangıçlı ailesel ensefalopati"]}},"xrefs":[{"source":"OMIM","code":"604218","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G31.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0035161","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680143","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":85110,"name":"Familial encephalopathy with neuroserpin inclusion bodies","classifications":[156,181]}],"children":[],"genes":[{"symbol":"SERPINI1","name":"serpin family I member 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"12103288[PMID]","hgnc":"8943","ensembl":"ENSG00000163536","omim":"602445","loci":["3q26.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult","Elderly"],"prevalence":[],"phenotypes":null}