{"orpha":157846,"name":"Neuroferritinopathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Adult basal ganglia disease","Ferritin-related neurodegeneration","Hereditary ferritinopathy"],"definition":"Neuroferritinopathy is a late-onset type of neurodegeneration with brain iron accumulation (NBIA) characterized by progressive chorea or dystonia and subtle cognitive deficits.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-157846/","orphanet_url":"https://www.orpha.net/en/disease/detail/157846","names":{"fr":{"name":"Neuroferritinopathie","synonyms":["Ferritinopathie héréditaire","Neurodégénérescence associée à la ferritine"],"definition":"La neuroferritinopathie est une neurodégénérescence d'apparition tardive avec surcharge cérébrale en fer caractérisée par une chorée et une dystonie progressives et des déficits cognitifs subtils."},"de":{"name":"Neuroferritinopathie","synonyms":["Basalganglien-Erkrankungen, adulte","Ferritin-abhängige Neurodegeneration","Ferritinopathie, hereditäre"]},"es":{"name":"Neuroferritinopatía","synonyms":["Enfermedad de los ganglios del adulto","Ferritinopatía hereditaria","Neurodegeneración asociada a la ferritina"],"definition":"Es una enfermedad neurodegenerativa de inicio tardío con acúmulo de hierro en el cerebro (NBIA) caracterizada por corea o distonía progresiva y déficits cognitivos sutiles."},"it":{"name":"Neuroferritinopatia","synonyms":["Ferritinopatia ereditaria","Malattia dei gangli basali a esordio nell'età adulta","Neurodegenerazione legata alla ferritina"]},"nl":{"name":"Neuroferritinopathie","synonyms":["Erfelijke ferritinopathie","Ferritine-gerelateerde neurodegeneratie","Volwassen basale gangliaziekte"],"definition":"Een laat optredend type van neurodegeneratie met ijzerstapeling in hersenen (NBIA), gekenmerkt door progressieve chorea of dystonie en subtiele cognitieve functiestoornissen."},"pt":{"name":"Neuroferritinopatia"},"pl":{"name":"Neuroferrytynopatia","synonyms":["Choroba zwojów podstawnych dorosłych","Dziedziczna neuroferrytynopatia","Neurodegeneracja związana z ferrytyną"]},"cs":{"name":"Neuroferitinopatie","synonyms":["Neurodegenerace spojená s akumulací železa","Hereditární feritinopatie","Onemocnění bazálních ganglií u dospělých"]},"uk":{"name":"Нейроферритинопатія","synonyms":["Захворювання базальних гангліїв у дорослих","Нейродегенерація, повязана з феритином","Спадкова феритинопатія"],"definition":"Neuroferritinopathy is a late-onset type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by progressive chorea or dystonia and subtle cognitive deficits."},"zh":{"name":"大脑铁沉积的神经退行性变性3型","synonyms":["铁蛋白相关神经退行性病变"],"definition":"神经铁蛋白病变是一种迟发性神经退行性变伴脑铁蓄积（NBIA，见该词条），其特征是进行性舞蹈病或肌张力障碍和精细认知缺陷。"},"tr":{"name":"Nöroferritinopati","synonyms":["Kalıtsal ferritinopati","Erişkin bazal gangliya hastalığı","Ferritin-ilişkili nörodejenerasyon"]}},"xrefs":[{"source":"OMIM","code":"606159","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G23.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A01.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"55060925"},{"source":"MONDO","code":"0011638","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C548080","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1853578","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10686","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":309842,"name":"Disorder of iron metabolism and transport","classifications":[150,156]},{"orpha":158266,"name":"Huntington disease-like syndrome","classifications":[156,181]},{"orpha":385,"name":"Neurodegeneration with brain iron accumulation","classifications":[156,181]}],"children":[],"genes":[{"symbol":"FTL","name":"ferritin light chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"16116125[PMID]_23447832[PMID]","hgnc":"3999","ensembl":"ENSG00000087086","omim":"134790","loci":["19q13.33"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":90.0,"area":"Worldwide","status":"Validated","source":"27022507[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_27022507[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-10-05","source":"17142829[PMID]_20301320[PMID]","terms":[{"hpo":"HP:0002134","label":"Abnormal basal ganglia morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012343","label":"Decreased serum ferritin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012675","label":"Iron accumulation in brain","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002339","label":"Abnormal caudate nucleus morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031982","label":"Abnormal putamen morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012696","label":"Abnormal thalamic MRI signal intensity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100321","label":"Abnormality of the dentate nucleus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002067","label":"Bradykinesia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002072","label":"Chorea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001618","label":"Dysphonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000712","label":"Emotional lability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002454","label":"Eye of the tiger anomaly of globus pallidus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004373","label":"Focal dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000338","label":"Hypomimic face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004305","label":"Involuntary movements","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012678","label":"Iron accumulation in substantia nigra","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031959","label":"Leg dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002310","label":"Orofacial dyskinesia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012690","label":"T2 hypointense thalamus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031960","label":"Arm dystonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000643","label":"Blepharospasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001348","label":"Brisk reflexes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002340","label":"Caudate atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007350","label":"Hyperreflexia in upper limbs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007772","label":"Impaired smooth pursuit","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001686","label":"Loss of voice","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002395","label":"Lower limb hyperreflexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010530","label":"Palatal myoclonus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001300","label":"Parkinsonism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001621","label":"Weak voice","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002356","label":"Writer's cramp","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000727","label":"Frontal lobe dementia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002922","label":"Increased CSF protein concentration","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000709","label":"Psychosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002322","label":"Resting tremor","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0007123","label":"Subcortical dementia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0025331","label":"Upgaze palsy","frequency":"Very rare (<4-1%)","criteria":null}]}}