{"orpha":97346,"name":"ADan amyloidosis","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Familial dementia, Danish type"],"definition":"A rare, neurodegenerative disease characterized by progressive cataracts, hearing loss, cerebellar ataxia, paranoid psychosis and dementia. Neuropathological features are diffuse atrophy of all parts of the brain, chronic diffuse encephalopathy and the presence of extremely thin and almost completely demyelinated cranial nerves.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-97346/","orphanet_url":"https://www.orpha.net/en/disease/detail/97346","names":{"fr":{"name":"Amylose ADan","synonyms":["Démence familiale type danoise"],"definition":"Maladie neurodégénérative rare caractérisée par une cataracte progressive, une perte d'audition, une ataxie cérébelleuse, une psychose paranoïaque et une démence. Les caractéristiques neuropathologiques sont une atrophie diffuse de toutes les parties du cerveau, une encéphalopathie chronique diffuse et la présence de nerfs crâniens extrêmement fins et presque entièrement démyélinisés."},"de":{"name":"ADan-Amyloidose","synonyms":["Demenz, familiäre, Dänischer Typ"],"definition":"Eine seltene, neurodegenerative Erkrankung, die durch fortschreitenden Katarakt, Hörverlust, zerebelläre Ataxie, paranoide Psychose und Demenz gekennzeichnet ist. Neuropathologische Merkmale sind eine diffuse Atrophie aller Teile des Gehirns, eine chronische diffuse Enzephalopathie und das Vorhandensein von extrem dünnen und fast vollständig demyelinisierten Hirnnerven."},"es":{"name":"Amiloidosis ADan","synonyms":["Demencia familiar tipo danesa"],"definition":"Es una enfermedad neurodegenerativa poco frecuente caracterizada por cataratas progresivas, pérdida de audición, ataxia cerebelosa, psicosis paranoide y demencia. Las características neuropatológicas son atrofia cerebral difusa generalizada, encefalopatía crónica difusa y presencia de nervios craneales extremadamente delgados y casi completamente desmielinizados."},"it":{"name":"Amiloidosi ADan","synonyms":["Demenza familiare, tipo danese"],"definition":"L'amiloidosi ADan è una malattia neurodegenerativa rara, caratterizzata da cataratta progressiva, sordità, atassia cerebellare, psicosi paranoide e demenza. A livello neuropatologico, si osserva un'atrofia diffusa di tutte le aree del cervello e un'encefalopatia cronica diffusa; i nervi cranici sono molto sottili e quasi completamente demielinizzati."},"nl":{"name":"ADan-amyloïdose","synonyms":["Familiale dementie, Deens type"],"definition":"Een zeldzame, neurodegeneratieve ziekte, gekarakteriseerd door progressieve cataracten, gehoorverlies, cerebellaire ataxie, paranoïde psychose en dementie. Neuropathologische kenmerken zijn diffuse atrofie van alle delen van de hersenen, chronische diffuse encefalopathie, en de aanwezigheid van uiterst dunne en bijna volledig gedemyeliniseerde hersenzenuwen."},"pt":{"name":"Demência familiar, tipo dinamarquês"},"pl":{"name":"Amyloidoza ADan","synonyms":["Rodzinna demencja, typ duński"]},"cs":{"name":"ADan amyloidóza","synonyms":["Dánská familiární demence"]},"uk":{"name":"Амілоїдоз Adan","synonyms":["Сімейна деменція датського типу"],"definition":"A rare, neurodegenerative disease characterized by progressive cataracts, hearing loss, cerebellar ataxia, paranoid psychosis and dementia. Neuropathological features are diffuse atrophy of all parts of the brain, chronic diffuse encephalopathy and the presence of extremely thin and almost completely demyelinated cranial nerves."},"zh":{"name":"ADan淀粉样变","synonyms":["丹麦型家族性痴呆"],"definition":"一种罕见的神经退行性疾病，以进行性白内障、听力丧失、小脑性共济失调、偏执性精神病和痴呆症为特征。神经病理特征为大脑各部分弥漫性萎缩，慢性弥漫性脑病和极薄且几乎完全脱髓鞘的脑神经。"},"tr":{"name":"AD amiloidoz","synonyms":["Ailesel demans, Danimarka tipi"]}},"xrefs":[{"source":"OMIM","code":"117300","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E85.4+","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"I68.0*","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5D00.2Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"54507082"},{"source":"MONDO","code":"0007297","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538209","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1861735","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9169","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":439254,"name":"ITM2B amyloidosis","classifications":[156,181,196]}],"children":[],"genes":[{"symbol":"ITM2B","name":"integral membrane protein 2B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"10781099[PMID]","hgnc":"6174","ensembl":"ENSG00000136156","omim":"603904","loci":["13q14.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":null}