{"orpha":527276,"name":"Encephalopathy due to mitochondrial and peroxisomal fission defect","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare mitochondrial disease characterized by a variable phenotype comprising delayed psychomotor development or neurodevelopmental regression, hypotonia, seizures, microcephaly, optic atrophy, pyramidal signs, and peripheral neuropathy, among others. Age of onset and disease severity are also variable with some cases taking a fatal course in early infancy. Serum lactate levels may be elevated. Reported brain imaging findings include abnormal signals in the basal ganglia, cerebral and/or cerebellar atrophy, and white matter abnormalities.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-527276/","orphanet_url":"https://www.orpha.net/en/disease/detail/527276","names":{"fr":{"name":"Encéphalopathie par défaut de fission mitochondriale et peroxysomale","synonyms":["Encéphalopathie par défaut de fission des mitochondries et peroxysomes"],"definition":"Maladie mitochondriale rare caractérisée par un phénotype variable comprenant, entre autres, un retard du développement psychomoteur ou une régression neurodéveloppementale, une hypotonie, des crises d'épilepsie, une microcéphalie, une atrophie optique, des signes d'atteinte pyramidale et une neuropathie périphérique. L'âge d'apparition et la gravité de la maladie sont également variables, certains cas prenant une tournure fatale dans la petite enfance. Les taux de lactate sérique peuvent être élevés. Parmi les anomalies rapportées, mises en évidence par imagerie cérébrale, figurent une intensité anormale du signal des ganglions de la base, une atrophie cérébrale et/ou cérébelleuse et des anomalies de la substance blanche."},"de":{"name":"Enzephalopathie durch mitochondrialen und peroxisomalen Teilungsdefekt","definition":"Eine seltene mitochondriale Erkrankung, die durch einen variablen Phänotyp gekennzeichnet ist, der unter anderem eine verzögerte psychomotorische Entwicklung oder eine Regression der neurologischen Entwicklung, Hypotonie, Krampfanfälle, Mikrozephalie, Optikusatrophie, pyramidale Zeichen und periphere Neuropathie umfasst. Das Alter des Ausbruchs und der Schweregrad der Erkrankung sind ebenfalls unterschiedlich, wobei einige Fälle bereits im frühen Säuglingsalter tödlich verlaufen. Die Serumlaktatwerte können erhöht sein. Zu den berichteten Befunden in der Bildgebung des Gehirns gehören abnorme Signale in den Basalganglien, zerebrale und/oder zerebelläre Atrophie und Anomalien der weißen Substanz."},"es":{"name":"Encefalopatía por un defecto en la fisión mitocondrial y peroxisomal","definition":"Es una enfermedad mitocondrial poco frecuente caracterizada por un fenotipo variable que comprende retraso del desarrollo psicomotor o regresión del neurodesarrollo, hipotonía, crisis, microcefalia, atrofia óptica, signos piramidales y neuropatía periférica, entre otros. La edad de aparición y la gravedad de la enfermedad también son variables y algunos casos siguen un curso fatal en la primera infancia. Los niveles séricos de lactato pueden estar elevados. Los hallazgos en imágenes cerebrales descritos incluyen señales anómalas en los ganglios basales, atrofia cerebral y/o cerebelosa y anomalías de la sustancia blanca."},"it":{"name":"Encefalopatia da difetto della fissione dei mitocondri e dei perossisomi","definition":"Si tratta di una malattia mitocondriale rara, caratterizzata da un quadro clinico variabile, che comprende il ritardo dello sviluppo psicomotorio o la regressione dello sviluppo neurologico, l'ipotonia, le crisi epilettiche, la microcefalia, l'atrofia ottica, i segni piramidali e la neuropatia periferica. L'età d'esordio e la gravità della malattia sono variabili, ma in alcuni casi la malattia è letale nella prima infanzia. I livelli di lattato nel siero possono essere elevati. Le neuroimmagini evidenziano segnali anomali nei gangli basali, atrofia cerebrale e/o cerebellare e anomalie della sostanza bianca."},"nl":{"name":"Encefalopathie door een defect van mitochondriale en peroxisomale deling","definition":"Een zeldzame mitochondriale aandoening, gekarakteriseerd door een variabel fenotype bestaande uit onder meer psychomotorische ontwikkelingsachterstand of regressie van neurologische ontwikkeling, hypotonie, insulten, microcefalie, opticusatrofie, piramidale verschijnselen, en perifere neuropathie. Aanvangsleeftijd en ernst van de ziekte zijn ook variabel, en in sommige gevallen kent de ziekte een fatale uitkomst in de vroege zuigelingentijd. Lactaatgehaltes in serum kunnen verhoogd zijn. Gerapporteerde bevindingen bij beeldvorming van hersenen zijn onder meer abnormale signalen in basale ganglia, cerebrale en/of cerebellaire atrofie, en afwijkingen van witte stof."},"pt":{"name":"Encefalopatia devida a defeito de fissão mitocondrial e peroxissomal"},"pl":{"name":"Encefalopatia wywołana zaburzeniem fragmentacji mitochondriów i peroksysomów"},"cs":{"name":"Encefalopatie způsobená poruchou mitochondriálního a peroxizomálního štěpení"},"uk":{"name":"Енцефалопатія внаслідок дефекту мітохондріального та пероксисомного поділу","definition":"A rare mitochondrial disease characterized by a variable phenotype comprising delayed psychomotor development or neurodevelopmental regression, hypotonia, seizures, microcephaly, optic atrophy, pyramidal signs, and peripheral neuropathy, among others. Age of onset and disease severity are also variable with some cases taking a fatal course in early infancy. Serum lactate levels may be elevated. Reported brain imaging findings include abnormal signals in the basal ganglia, cerebral and/or cerebellar atrophy, and white matter abnormalities."},"zh":{"name":"线粒体和过氧化物酶体裂变缺陷性脑病","definition":"一种罕见的线粒体疾病，其特点是有多种表型，包括精神运动发育迟缓或神经发育退化、肌张力低下、癫痫发作、小脑萎缩、视神经萎缩、锥体束征和周围神经病变等。发病年龄和疾病严重程度也不尽相同，有的病例死于婴儿早期。血清乳酸水平可能升高。报告的脑影像学检查结果包括基底节异常信号、大脑和（或）小脑萎缩和白质异常。"},"tr":{"name":"Mitokondriyal ve peroksizomal fisyon defektine bağlı ensefalopati"}},"xrefs":[{"source":"OMIM","code":"614388","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617086","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E88.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C5Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0054865","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681458","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":2443,"name":"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies","classifications":[150,156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":207018,"name":"Rare hereditary metabolic disease with peripheral neuropathy","classifications":[156,181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[{"orpha":330050,"name":"DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect","type":"Etiological subtype"},{"orpha":485421,"name":"MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect","type":"Etiological subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"DNM1L","name":"dynamin 1 like","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"17460227[PMID]","hgnc":"2973","ensembl":"ENSG00000087470","omim":"603850","loci":["12p11.21"],"via":{"orpha":330050,"name":"DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect"}},{"symbol":"MFF","name":"mitochondrial fission factor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"26783368[PMID]_22499341[PMID]","hgnc":"24858","ensembl":"ENSG00000168958","omim":"614785","loci":["2q36.3"],"via":{"orpha":485421,"name":"MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect"}}],"inheritance":[],"onset":["Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":15.0,"area":"Worldwide","status":"Validated","source":"17460227[PMID]_26825290[PMID]_26992161[PMID]_26604000[PMID]_27145208[PMID]_30109270[PMID]_27328748[PMID]_26783368[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_17460227[PMID]_26825290[PMID]_26992161[PMID]_26604000[PMID]_27145208[PMID]_30109270[PMID]_27328748[PMID]_26783368[PMID]"}],"phenotypes":null}