{"orpha":485421,"name":"MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome","Leigh-like encephalopathy-optic atrophy-peripheral neuropathy syndrome"],"definition":null,"note":"This disease is described under Encephalopathy due to mitochondrial and peroxisomal fission defect","url":"https://raremap.alftech.space/d/ORPHA-485421/","orphanet_url":"https://www.orpha.net/en/disease/detail/485421","names":{"fr":{"name":"Encéphalopathie par défaut de fission mitochondriale et peroxysomale associée à MFF","synonyms":["Encéphalopathie par défaut de fission des mitochondries et peroxysomes associée à MFF","Syndrome d'atrophie optique-neuropathie périphérique-encéphalopathie Leigh-like"]},"de":{"name":"MFF-abhängige Enzephalopathie durch mitochondrialen und peroxisomalen Teilungsdefekt","synonyms":["Leigh-ähnliche Basalganglienkrankheit-Optikusatrophie-periphere Neuropathie-Syndrom","Leigh-ähnliche Enzephalopathie-Optikusatrophie-periphere Neuropathie-Syndrom"]},"es":{"name":"Encefalopatía por un defecto en la fisión mitocondrial y peroxisomal asociada al gen MFF","synonyms":["Síndrome de encefalopatía similar a Leigh-atrofia óptica-neuropatía periférica","Síndrome de enfermedad de los ganglios basales similar a Leigh-atrofia óptica-neuropatía periférica"]},"it":{"name":"Malattia dei gangli basali simil-Leigh - atrofia ottica - neuropatia periferica"},"nl":{"name":"MFF-gerelateerde encefalopathie door defect van mitochondriale en peroxisomale deling","synonyms":["Leigh-achtige encefalopathie - opticusatrofie - perifere neuropathie-syndroom","Leigh-achtige ziekte van de basale ganglia - opticusatrofie - perifere neuropathie-syndroom"]},"pt":{"name":"Encefalopatia MFF-relacionada devida a defeitos de fissão mitocondrial e peroxissomal","synonyms":["Síndrome de encefalopatia semelhante a Leigh-atrofia óptica-neuropatia periférica"]},"pl":{"name":"Zespół choroby zwojów podstawnych podobnej do zespołu Leigha, zaniku nerwu wzrokowego i neuropatii obwodowej","synonyms":["Leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome","Leigh-like encephalopathy-optic atrophy-peripheral neuropathy syndrome"]},"cs":{"name":"MFF asociovaná encefalopatie způsobená poruchou mitochondriálního a peroxizomálního štěpení","synonyms":["Leigh-like encephalopathy-optic atrophy-peripheral neuropathy syndrome","Leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome","Syndrom zahrnující Leigh-like encefalopatii, optickou atrofii a periferní neuropatii","Syndrom zahrnující Leigh-like onemocnění bazálních ganglií, optickou atrofii a periferní neuropatii"]},"uk":{"name":"MFF-асоційована енцефалопатія, зумовлена дефектом мітохондріального та пероксисомного поділу","synonyms":["Синдром Лі-подібної хвороби базальних гангліїв - атрофії зорового нерва - периферичної нейропатії","Синдром Лі-подібна енцефалопатія - атрофія зорового нерва - периферична нейропатія"]},"zh":{"name":"线粒体和过氧化物酶体分裂缺陷导致的MFF相关性脑病","synonyms":["Leigh样基底节病-视神经萎缩-周围神经病变综合征"]},"tr":{"name":"Mitokondriyal ve peroksizomal fisyon defektine bağlı MFF-ilişkili ensefalopati","synonyms":["Leigh-benzeri ensefalopati-optik atrofi-periferik nöropati sendromu","Leigh-benzeri bazal gangliya hastalığı-optik atrofi-periferik nöropati sendromu"]}},"xrefs":[{"source":"OMIM","code":"617086","qualifier":"E","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":"0014905","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4310726","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":527276,"name":"Encephalopathy due to mitochondrial and peroxisomal fission defect","classifications":[150,156,181]}],"children":[],"genes":[{"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"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"26783368[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26783368[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-03-09","source":"26783368[PMID]_30361041[PMID]","terms":[{"hpo":"HP:0012751","label":"Abnormal basal ganglia MRI signal intensity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012087","label":"Abnormal mitochondrial shape","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012696","label":"Abnormal thalamic MRI signal intensity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000649","label":"Abnormality of visual evoked potentials","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008936","label":"Axial hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001272","label":"Cerebellar atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000762","label":"Decreased nerve conduction velocity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002376","label":"Developmental regression","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000544","label":"External ophthalmoplegia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004302","label":"Functional motor deficit","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002521","label":"Hypsarrhythmia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000758","label":"Impaired use of nonverbal behaviors","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040288","label":"Nasogastric tube feeding","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000543","label":"Optic disc pallor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012736","label":"Profound global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005484","label":"Secondary microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025112","label":"Sound sensitivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011097","label":"Epileptic spasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Occasional (29-5%)","criteria":null}]}}