{"orpha":456318,"name":"Hereditary sensory neuropathy-deafness-dementia syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["HSAN1E","HSN1E","Hereditary sensory neuropathy-sensorineural hearing loss-dementia syndrome"],"definition":"A rare genetic neurological disorder characterized by sensorineural hearing loss, sensory neuropathy, behavioral abnormalities, and dementia. Occurrence of seizures has also been reported. Age of onset is between adolescence and adulthood. The disease is progressive, with fatal outcome typically in the fifth to sixth decade.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-456318/","orphanet_url":"https://www.orpha.net/en/disease/detail/456318","names":{"fr":{"name":"Syndrome de neuropathie sensorielle-surdité-démence","synonyms":["HSAN1E","HSN1E","Neuropathie sensorielle héréditaire type 1E","Syndrome de neuropathie sensorielle-surdité neurosensorielle-démence"],"definition":"Maladie neurologique génétique rare caractérisée par une perte auditive neurosensorielle, une neuropathie sensorielle, des troubles du comportement et une démence. La survenue de crises convulsives a également été rapportée. L'âge d'apparition des signes cliniques varie entre l'adolescence et l'âge adulte. La maladie est progressive et le décès survient généralement entre la cinquième et la sixième décennie de vie."},"de":{"name":"Hereditäre sensorische Neuropathie-sensorineurale Schwerhörigkeit-Demenz-Syndrom","synonyms":["HSAN1E","HSN1E"],"definition":"Eine genetisch bedingte neurologische Störung, die durch Schallempfindungsschwerhörigkeit, sensorische Neuropathie, Verhaltensanomalien und Demenz gekennzeichnet ist. Es wurde auch über das Auftreten von Krampfanfällen berichtet. Die Krankheit tritt zwischen dem Jugend- und dem Erwachsenenalter auf. Die Krankheit ist progressiv und endet in der Regel im fünften bis sechsten Lebensjahrzehnt tödlich."},"es":{"name":"Síndrome hereditario de neuropatía sensitiva-sordera-demencia","synonyms":["HSAN1E","HSN1E","Síndrome hereditario de neuropatía sensitiva-hipoacusia neurosensorial-demencia"],"definition":"Es un trastorno neurológico de origen genético poco frecuente, caracterizado por pérdida auditiva neurosensorial, neuropatía sensitiva, alteraciones de la conducta y demencia. También se han descrito crisis epilépticas. La edad de inicio varía entre la adolescencia y la edad adulta. La enfermedad es progresiva, el fallecimiento se produce típicamente entre la quinta y la sexta década de la vida."},"it":{"name":"Sindrome ereditaria neuropatia sensoriale-sordità-demenza","synonyms":["HSAN1E","HSN1E","Sindrome ereditaria demenza-sordità neurosensoriale-neuropatia sensoriale"],"definition":"Si tratta di una malattia neurologica rara, di origine genetica, caratterizzata da sordità neurosensoriale, neuropatia sensoriale, anomalie del comportamento e demenza. Può associarsi a crisi epilettiche. La malattia esordisce tra l'adolescenza e l'età adulta ed è progressiva. Di solito è letale tra la quinta e la sesta decade di vita."},"nl":{"name":"Erfelijke sensorische neuropathie - doofheid - dementie-syndroom","synonyms":["Erfelijke sensorische neuropathie - sensorineuraal gehoorverlies - dementie-syndroom","HSAN1E","HSN1E"],"definition":"Een zeldzame, genetische neurologische aandoening, gekarakteriseerd door sensorineuraal gehoorverlies, sensorische neuropathie, gedragsafwijkingen, en dementie. Optreden van insulten werd ook reeds gerapporteerd. De aanvangsleeftijd ligt tussen adolescentie en volwassenheid. De ziekte is progressief, met doorgaans in het vijfde tot zesde levensdecennium een fatale afloop."},"pt":{"name":"Síndrome de neuropatia sensitiva hereditária-surdez-demência"},"pl":{"name":"Zespół dziedzicznej czuciowej neuropatii, głuchoty i demencji","synonyms":["HSAN1E","HSN1E","Zespół dziedzicznej czuciowej neuropatii, czuciowo-nerwowej utraty słuchu i demencji"]},"cs":{"name":"Syndrom zahrnující hereditární senzorickou neuropatii, hluchotu a demenci","synonyms":["HSAN1E","HSN1E","Syndrom zahrnující hereditární senzorickou neuropatii, senzorineurální ztrátu sluchu a demenci"]},"uk":{"name":"Синдром спадкової сенсорної нейропатії-глухоти-деменції","synonyms":["Синдром спадкової сенсорної нейропатії - сенсоневральної приглухуватості - деменції","HSAN1E","HSN1E"],"definition":"A rare genetic neurological disorder characterized by sensorineural hearing loss, sensory neuropathy, behavioral abnormalities, and dementia. Occurrence of seizures has also been reported. Age of onset is between adolescence and adulthood. The disease is progressive, with fatal outcome typically in the fifth to sixth decade."},"zh":{"name":"遗传性感觉神经疾病-耳聋-痴呆综合征","synonyms":["遗传性感觉神经病-感觉神经性听力减退-痴呆综合征"],"definition":"一种罕见的遗传性神经系统疾病，其特征是感音神经性听力损失、感觉神经病变、行为异常和痴呆。也有癫痫发作的报道。发病年龄为青春期至成年。该病是渐进性的，通常在五十岁至六十岁致死。"},"tr":{"name":"Kalıtsal duyusal nöropati-sağırlık-demans sendromu","synonyms":["HSN1E","HSAN1E","Kalıtsal duyusal nöropati-sensörinöral işitme kaybı-demans sendromu"]}},"xrefs":[{"source":"OMIM","code":"614116","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G60.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0013584","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C580162","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3279885","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"11927","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":140474,"name":"Autosomal dominant hereditary sensory and autonomic neuropathy","classifications":[156,181]},{"orpha":276058,"name":"Genetic neurodegenerative disease with dementia","classifications":[156]},{"orpha":98534,"name":"Neurodegenerative disease with dementia","classifications":[181]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]}],"children":[],"genes":[{"symbol":"DNMT1","name":"DNA methyltransferase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21532572[PMID]_23365052[PMID]","hgnc":"2976","ensembl":"ENSG00000130816","omim":"126375","loci":["19p13.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":6.0,"area":"Worldwide","status":"Validated","source":"23365052[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_23365052[PMID]"}],"phenotypes":null}