{"orpha":289560,"name":"Mitochondrial membrane protein-associated neurodegeneration","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["MPAN","NBIA due to C19orf12 mutation","NBIA4","Neurodegeneration with brain iron accumulation due to C19orf12 mutation","Neurodegeneration with brain iron accumulation type 4"],"definition":"A rare neurodegenerative disorder characterized by iron accumulation in specific regions of the brain, usually the basal ganglia, and associated with slowly progressive pyramidal (spasticity) and extrapyramidal (dystonia) signs, motor axonal neuropathy, optic atrophy, cognitive decline, and neuropsychiatric abnormalities.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-289560/","orphanet_url":"https://www.orpha.net/en/disease/detail/289560","names":{"fr":{"name":"Neurodégénérescence associée à la protéine de membrane mitochondriale","synonyms":["MPAN","NBIA liée à des mutations de C19orf12","NBIA4","Neurodégénérescence avec surcharge cérébrale en fer liée à des mutations de C19orf12","Neurodégénérescence avec surcharge cérébrale en fer type 4"],"definition":"Maladie neurodégénérative rare caractérisée par une accumulation de fer dans des régions spécifiques du cerveau, généralement les ganglions de la base, en association avec des signes d'atteinte pyramidale (spasticité) et d'atteinte extrapyramidale (dystonie) lentement progressives, une neuropathie axonale motrice, une atrophie optique, un déclin cognitif et des anomalies neuropsychiatriques."},"de":{"name":"Mitochondrienmembran-Protein-assoziierte Neurodegeneration","synonyms":["MPAN","NBIA durch C19orf12-Gen-Mutation","NBIA4","Neurodegeneration mit Eisenspeicherung im Gehirn Typ 4","Neurodegeneration mit Eisenspeicherung im Gehirn durch C19orf12-Gen-Mutation"],"definition":"Eine seltene neurodegenerative Erkrankung, die durch Eisenakkumulation in bestimmten Hirnregionen, in der Regel den Basalganglien, gekennzeichnet ist und mit langsam fortschreitenden pyramidalen (Spastik) und extrapyramidalen (Dystonie) Zeichen, motorischer axonaler Neuropathie, Optikusatrophie, kognitivem Verfall und neuropsychiatrischen Auffälligkeiten einhergeht."},"es":{"name":"Neurodegeneración asociada a proteínas de membrana mitocondrial","synonyms":["MPAN","NBIA por una mutación en el gen C19orf12","NBIA4","Neurodegeneración con acumulación cerebral de hierro por una mutación en el gen C19orf12","Neurodegeneración con acumulación cerebral de hierro tipo 4"],"definition":"Es un trastorno neurodegenerativo poco frecuente caracterizado por el acúmulo de hierro en regiones específicas del cerebro, generalmente en los ganglios basales, y asociado con signos piramidales (espasticidad) y extrapiramidales (distonía) de progresión lenta, neuropatía axonal motora, atrofia óptica, deterioro cognitivo y trastornos neuropsiquiátricos."},"it":{"name":"Neurodegenerazione associata alle proteine della membrana mitocondriale","synonyms":["MPAN","NBIA da mutazione in C19orf12","NBIA5","Neurodegenerazione con accumulo cerebrale di ferro da mutazione di C19orf12","Neurodegenerazione con accumulo cerebrale di ferro, tipo 4"],"definition":"La neurodegenerazione associata alle proteine della membrana mitocondriale (MPAN) è una malattia neurodegenerativa rara caratterizzata dall'accumulo di ferro in specifiche aree del cervello, di solito i gangli basali, associata a segni piramidali (spasticità) ed extrapiramidali (distonia) a progressione lenta, neuropatia assonale motoria, atrofia ottica, declino cognitivo e anomalie neuropsichiatriche."},"nl":{"name":"Neurodegeneratie geassocieerd met mitochondriaal membraaneiwit","synonyms":["MPAN","NBIA door C19orf12-mutatie","NBIA4","Neurodegeneratie met ijzerstapeling in hersenen door C19orf12-mutatie","Neurodegeneratie met ijzerstapeling in hersenen type 4"],"definition":"Een zeldzame neurodegeneratieve stoornis die wordt gekarakteriseerd door accumulatie van ijzer in specifieke gebieden van de hersenen, voornamelijk de basale ganglia, en geassocieerd is met traag progressieve piramidale (spasticiteit) en extrapiramidale (dystonie) tekenen, motorische axonale neuropathie, opticusatrofie, cognitieve aftakeling, en neuropsychiatrische afwijkingen."},"pt":{"name":"Neurodegenerescência associada a proteína de membrana mitocondrial","synonyms":["MPAN","NBIA por mutação em C19orf12","Neurodegenerescência com acumulação cerebral de ferro por mutação em C19orf12"]},"pl":{"name":"Neurodegeneracja związna z białkiem błony mitochondrialnej","synonyms":["MPAN","NBIA z powodu mutacji C19orf12","NBIA4","Neurodegeneracja z gromadzeniem żelaza w mózgu typu 4","Neurodegeneracja z gromadzeniem żelaza w mózgu z powodu mutacji C19orf12"]},"cs":{"name":"Neurodegenerace asociovaná s proteinem mitochondriální membrány","synonyms":["MPAN","NBIA4","Neurodegenerace s akumulací železa v mozku, typ 4","NBIA z důvodu mutace C19orf12","Neurodegenerace s akumulací železa v mozku z důvodu mutace C19orf12"]},"uk":{"name":"Мітохондріальна мембранна білок-асоційована нейродегенерація","synonyms":["MPAN","NBIA внаслідок мутації C19orf12","NBIA4","Нейродегенерація з накопиченням заліза в мозку через мутацію C19orf12","Нейродегенерація з накопиченням заліза в мозку, тип 4"],"definition":"A rare neurodegenerative disorder characterized by iron accumulation in specific regions of the brain, usually the basal ganglia, and associated with slowly progressive pyramidal (spasticity) and extrapyramidal (dystonia) signs, motor axonal neuropathy, optic atrophy, cognitive decline, and neuropsychiatric abnormalities."},"zh":{"name":"线粒体膜蛋白相关性神经变性","synonyms":["C19orf12基因突变所致神经退行性变大脑铁蓄积"],"definition":"一种罕见的神经退行性病变，其特征是在脑内特定区域铁累积（通常是基底节），并伴有慢性进行性锥体（痉挛状态）和锥体外系（肌张力障碍）症状、运动轴索性神经病、视神经萎缩、认知能力下降和神经精神异常。"},"tr":{"name":"Mitokondriyal membran proteini-ilişkili nörodejenerasyon","synonyms":["MPAN","NBIA4","C19orf12 mutasyonuna bağlı NBIA","Beyin demir birikimi tip 4 ile seyreden nörodejenerasyon","C19orf12 mutasyonuna bağlı beyin demir birikimi ile seyreden nörodejenerasyon"]}},"xrefs":[{"source":"OMIM","code":"614298","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G23.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C64.10","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"976004020"},{"source":"MONDO","code":"0013674","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3280371","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12569","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":385,"name":"Neurodegeneration with brain iron accumulation","classifications":[156,181]},{"orpha":441434,"name":"Syndromic hereditary optic neuropathy","classifications":[156,189]}],"children":[],"genes":[{"symbol":"C19ORF12","name":"chromosome 19 open reading frame 12","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21981780[PMID]","hgnc":"25443","ensembl":"ENSG00000131943","omim":"614297","loci":["19q12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.1,"area":"Worldwide","status":"Validated","source":"[EXPERT]_24575447[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-03-01","source":"23269600[PMID]_23278385[PMID]_24575447[PMID]","terms":[{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002378","label":"Hand tremor","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001268","label":"Mental deterioration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002172","label":"Postural instability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002063","label":"Rigidity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002453","label":"Abnormal globus pallidus morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0045007","label":"Abnormality of the substantia nigra","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002607","label":"Bowel incontinence","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002067","label":"Bradykinesia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002359","label":"Frequent falls","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006801","label":"Hyperactive deep tendon reflexes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007002","label":"Motor axonal neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001300","label":"Parkinsonism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002313","label":"Spastic paraparesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000020","label":"Urinary incontinence","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000570","label":"Abnormal saccadic eye movements","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002362","label":"Shuffling gait","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Very rare (<4-1%)","criteria":null}]}}