{"orpha":2289,"name":"Neuronal intranuclear inclusion disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Neuronal intranuclear inclusion disease (NIID) is a very rare multisystem neurodegenerative disorder characterized by the presence of eosinophilic intranuclear inclusions in neuronal and glial cells, and neuronal loss.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2289/","orphanet_url":"https://www.orpha.net/en/disease/detail/2289","names":{"fr":{"name":"Maladie des inclusions intranucléaires neuronales","definition":"La maladie des inclusions intranucléaires neuronales (MIIN) est une maladie neurodégénérative multisystémique très rare caractérisée par la présence d'inclusions intranucléaires éosinophiles dans les neurones et les cellules gliales et une perte neuronale. Des cas survenant dans la petite enfance, l'enfance et à l'âge adulte ont été rapportés."},"de":{"name":"Krankheit der neuronalen intranukleären Einschlusskörperchen"},"es":{"name":"Enfermedad de inclusiones intranucleares neuronales","definition":"La enfermedad de inclusiones intranucleares neuronales (NIID; por sus siglas en inglés) es un trastorno neurodegenerativo multisistémico muy poco frecuente caracterizado por la presencia de inclusiones intranucleares eosinofílicas en células neuronales y gliales, y pérdida neuronal."},"it":{"name":"Malattia da inclusioni intranucleari neuronali"},"nl":{"name":"Neuronale intranucleaire inclusieziekte","definition":"Neuronale intranucleaire inclusieziekte (NIID) is een zeer zeldzame multisystemische neurodegeneratieve aandoening, gekenmerkt door de aanwezigheid van eosinofiele intranucleaire inclusies in neuronen en gliacellen, en verlies van zenuwcellen."},"pt":{"name":"Doença de inclusões intranucleares neuronais"},"pl":{"name":"Choroba wewnątrzjądrowych ciał wtrętowych"},"cs":{"name":"Nemoc neuronální intranukleární inkluze"},"uk":{"name":"Хвороба внутрішньоядерних включень нейронів","definition":"Neuronal intranuclear inclusion disease (NIID) is a very rare multisystem neurodegenerative disorder characterized by the presence of eosinophilic intranuclear inclusions in neuronal and glial cells, and neuronal loss."},"zh":{"name":"神经元核内包涵体病"},"tr":{"name":"Nöronal intranükleer inklüzyon hastalığı"}},"xrefs":[{"source":"OMIM","code":"603472","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G31.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"693937860"},{"source":"MONDO","code":"0011327","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537395","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1863843","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3971","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10084235","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":276058,"name":"Genetic neurodegenerative disease with dementia","classifications":[156]},{"orpha":98534,"name":"Neurodegenerative disease with dementia","classifications":[181]}],"children":[],"genes":[{"symbol":"NOTCH2NLC","name":"notch 2 N-terminal like C","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"31178126[PMID]","hgnc":"53924","ensembl":"ENSG00000286219","omim":"618025","loci":["1q21.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult","Childhood","Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0100022","label":"Abnormality of movement","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003457","label":"EMG abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003312","label":"Abnormal form of the vertebral bodies","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000726","label":"Dementia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000602","label":"Ophthalmoplegia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003298","label":"Spina bifida occulta","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000600","label":"Abnormality of the pharynx","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Occasional (29-5%)","criteria":null}]}}