{"orpha":385,"name":"Neurodegeneration with brain iron accumulation","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":["NBIA"],"definition":"A group of rare neurometabolic disease characterized by progressive extrapyramidal dysfunction (including generalized or oromandibular dystonia, dysarthria, Parkinsonism, choreoathetosis), iron accumulation in the brain and the presence of axonal spheroids, usually limited to the central nervous system. It encompasses several disorders that can be distinguised by MRI and patients may present with variable clinical features including neuropathy, spastic paraplegia, encephalopathy, autism, dementia, diabetus mellitus, retinitis pigmentosa, optic atrophy, hypogonadism, alopecia and deafness. The age at onset and rate of progression are variable among individuals.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-385/","orphanet_url":"https://www.orpha.net/en/disease/detail/385","names":{"fr":{"name":"Neurodégénérescence avec surcharge cérébrale en fer","synonyms":["NBIA"],"definition":"La neurodégénérescence avec surcharge cérébrale en fer (NBIA, anciennement syndrome Hallervorden-Spatz) rassemble un groupe de maladies neurodégénératives rares caractérisées par un dysfonctionnement progressif du système extrapyramidal (dystonie, rigidité, choréoathétose), une accumulation de fer dans le cerveau et la présence de sphéroïdes axonaux, généralement limités au système nerveux central.."},"de":{"name":"Neurodegeneration mit Eisenspeicherung im Gehirn","synonyms":["NBIA"],"definition":"Die Neurodegeneration mit Eisenspeicherung im Gehirn (NBIA, frühere Bezeichnung: Hallervorden-Spatz-Syndrom) umfasst eine Gruppe neurodegenerativer Erkrankungen mit progredienten extrapyramidalen Funktionsstörungen (Dystonie, Rigor, Choreoathetose) und Eisenspeicherung im Gehirn, vor allem in den Basalganglien."},"es":{"name":"Neurodegeneración con acúmulo cerebral de hierro","synonyms":["NACH","NBIA"],"definition":"La neurodegeneración con acúmulo cerebral de hierro (NACH); anteriormente conocida como síndrome o enfermedad de Hallervorden-Spatz) abarca un grupo de trastornos neurodegenerativos poco frecuentes caracterizados por disfunción extrapiramidal progresiva (distonía, rigidez, coreoatetosis), acúmulo de hierro en el cerebro y presencia de esferoides axonales, por lo general limitada al sistema nervioso central."},"it":{"name":"Neurodegenerazione con accumulo cerebrale di ferro","synonyms":["NBIA"]},"nl":{"name":"Neurodegeneratie met ijzerstapeling in hersenen","synonyms":["NBIA"],"definition":"Neurodegeneratie met ijzerstapeling in hersenen (NBIA, voorheen gekend als syndroom van Hallervorden-Spatz) omvat een groep van zeldzame neurodegeneratieve aandoeningen, gekarakteriseerd door progressieve extrapiramidale disfunctie (dystonie, rigiditeit, choreoathetose), ijzerstapeling in hersenen en de aanwezigheid van axonale sferoïden, meestal beperkt tot centraal zenuwstelsel."},"pt":{"name":"Neurodegerescência com acumulação cerebral de ferro","synonyms":["Distrofia neuroaxonal infantil tardia","Doença de Hallervorden-Spatz","Doença dos gânglios da base de início na idade adulta","NBIA","Neurodegenerescência associada à pantotenato cinase","Neuroferritinopatia"]},"pl":{"name":"Zespoły neurozwyrodnieniowe spowodowane gromadzeniem się żelaza w mózgu","synonyms":["NBIA"]},"cs":{"name":"Neurodegenerace spojená s akumulací železa v mozku","synonyms":["NBIA"]},"uk":{"name":"Нейродегенерація з накопиченням заліза в головному мозку","synonyms":["NBIA"],"definition":"Neurodegeneration with brain iron accumulation (NBIA, formerly Hallervorden-Spatz syndrome) encompasses a group of rare neurodegenerative disorders characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation in the brain and the presence of axonal spheroids, usually limited to the central nervous system."},"zh":{"name":"神经变性伴脑内铁积聚","synonyms":["NBIA"]},"tr":{"name":"Beyinde demir birikimi ile seyreden nörodejenerasyon","synonyms":["NBIA"]}},"xrefs":[{"source":"MONDO","code":"0018307","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"18307","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538421","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931845","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"11899","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":307058,"name":"Miscellaneous movement disorder due to genetic neurodegenerative disease","classifications":[156]},{"orpha":306695,"name":"Miscellaneous movement disorder due to neurodegenerative disease","classifications":[181]},{"orpha":98534,"name":"Neurodegenerative disease with dementia","classifications":[181]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]}],"children":[{"orpha":48818,"name":"Aceruloplasminemia","type":"Disease"},{"orpha":329284,"name":"Beta-propeller protein-associated neurodegeneration","type":"Disease"},{"orpha":397725,"name":"COASY protein-associated neurodegeneration","type":"Disease"},{"orpha":496756,"name":"Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome","type":"Disease"},{"orpha":329308,"name":"Fatty acid hydroxylase-associated neurodegeneration","type":"Disease"},{"orpha":306674,"name":"Kufor-Rakeb syndrome","type":"Disease"},{"orpha":289560,"name":"Mitochondrial membrane protein-associated neurodegeneration","type":"Disease"},{"orpha":157846,"name":"Neuroferritinopathy","type":"Disease"},{"orpha":329303,"name":"PLA2G6-related neurodegeneration","type":"Clinical group"},{"orpha":157850,"name":"Pantothenate kinase-associated neurodegeneration","type":"Disease"},{"orpha":3464,"name":"Woodhouse-Sakati syndrome","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive","X-linked dominant"],"onset":["Adolescent","Adult","Childhood","Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.2,"area":"Europe","status":"Validated","source":"[EXPERT]_European Medicines Agency 2018[OTHER]"}],"phenotypes":null}