{"orpha":569290,"name":"Multiple mitochondrial dysfunctions syndrome type 6","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["PMPCB deficiency"],"definition":"A rare mitochondrial disease characterized by onset of episodic developmental regression in the first year of life, often in the setting of febrile illnesses, as well as hypotonia and seizures or refractory epileptic encephalopathy. Other observed features include ataxia, dystonia, or optic atrophy, among others. Patients do not achieve independent ambulation or meaningful speech. Brain imaging may show progressive cerebellar or diffuse atrophy and signal abnormalities of the basal ganglia. Serum lactate is often elevated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-569290/","orphanet_url":"https://www.orpha.net/en/disease/detail/569290","names":{"fr":{"name":"Syndrome de dysfonctionnements mitochondriaux multiples type 6","synonyms":["Déficit en PMPCB"],"definition":"Maladie mitochondriale rare caractérisée par une régression épisodique du développement au cours de la première année de vie, souvent dans le contexte d'une maladie fébrile, ainsi que par une hypotonie et des crises d'épilepsie ou une encéphalopathie épileptique réfractaire. D'autres caractéristiques observées sont une ataxie, une dystonie ou une atrophie optique, entre autres. Les patients ne parviennent pas à se déplacer de manière autonome ou à s'exprimer de manière cohérente. L'imagerie cérébrale peut mettre en évidence une atrophie cérébelleuse progressive ou diffuse et des anomalies de signal des ganglions de la base. Le taux de lactate sérique est souvent élevé."},"de":{"name":"Syndrom der multiplen mitochondrialen Dysfunktionen Typ 6","synonyms":["PMPCB-Defizienz","PMPCB-Mangel"],"definition":"Eine seltene mitochondriale Erkrankung, die durch den Beginn einer episodischen Entwicklungsrückbildung im ersten Lebensjahr, häufig im Zusammenhang mit fieberhaften Erkrankungen, sowie durch Hypotonie und Krampfanfälle oder refraktäre epileptische Enzephalopathie gekennzeichnet ist. Weitere beobachtete Merkmale sind unter anderem Ataxie, Dystonie oder Optikusatrophie. Die Patienten können sich nicht selbstständig fortbewegen oder sinnvoll sprechen. Die Bildgebung des Gehirns kann eine fortschreitende Atrophie des Kleinhirns oder eine diffuse Atrophie und Signalanomalien der Basalganglien zeigen. Das Serumlaktat ist häufig erhöht."},"es":{"name":"Síndrome de disfunción mitocondrial múltiple tipo 6","synonyms":["Deficiencia de PMPCB"],"definition":"Es una enfermedad mitocondrial poco frecuente caracterizada por el inicio de una regresión del desarrollo episódica en el primer año de vida, a menudo en el contexto de una enfermedad febril, así como hipotonía y crisis o encefalopatía epiléptica refractaria. Otras características observadas incluyen ataxia, distonía o atrofia óptica, entre otras. Los pacientes no logran una deambulación independiente o un habla significativa. Las neuroimágenes pueden mostrar atrofia cerebelosa progresiva o difusa y anomalías de la señal de los ganglios basales. El lactato sérico suele estar elevado."},"it":{"name":"Sindrome da disfunzioni mitocondriali multiple tipo 6","synonyms":["Deficit di PMPCB"]},"nl":{"name":"Multipele mitochondriale disfuncties-syndroom type 6","synonyms":["MMDS6","PMPCB-deficiëntie"],"definition":"Een zeldzame mitochondriale aandoening, gekenmerkt door aanvang van episodische ontwikkelingsregressie in het eerste levensjaar, vaak in de context van febriele ziekte, alsook hypotonie en insulten of refractaire epileptische encefalopathie. Overige kenmerken die worden waargenomen, zijn onder meer ataxie, dystonie, of opticusatrofie. Patiënten zijn niet in staat zich zelfstandig voort te bewegen of betekenisvol te spreken. Beeldvorming van hersenen toont mogelijk progressieve cerebellaire of diffuse atrofie en afwijkende signalen van basale ganglia. Lactaatgehalte in serum is vaak verhoogd."},"pt":{"name":"Síndrome de disfunção mitocondrial múltipla tipo 6","definition":"Doença mitocondrial rara caracterizada por início de regressão do desenvolvimento episódica no primeiro ano de vida, frequentemente no contexto de doenças febris, bem como hipotonia e convulsões ou encefalopatia epilética refratária. Outras características observadas incluem ataxia, distonia ou atrofia óptica, entre outras. Os doentes não deambulam autonomamente nem adquirem linguagem significativa. Os exames de neuroimagem cerebral podem demonstrar atrofia cerebelosa progressiva ou difusa e alterações de sinal dos gânglios da base. O lactato sérico está frequentemente elevado."},"pl":{"name":"Zespół mnogich dysfunkcji mitochondrialnych, typu 6","synonyms":["PMPCB deficiency"]},"cs":{"name":"Syndrom mnohočetné mitochondriální dysfunkce, typ 6","synonyms":["PMPCB deficiency"]},"uk":{"name":"Синдром множинних мітохондріальних дисфункцій, тип 6","synonyms":["Дефіцит PMPCB"],"definition":"A rare mitochondrial disease characterized by onset of episodic developmental regression in the first year of life, often in the setting of febrile illnesses, as well as hypotonia and seizures or refractory epileptic encephalopathy. Other observed features include ataxia, dystonia, or optic atrophy, among others. Patients do not achieve independent ambulation or meaningful speech. Brain imaging may show progressive cerebellar or diffuse atrophy and signal abnormalities of the basal ganglia. Serum lactate is often elevated."},"zh":{"name":"多线粒体功能障碍综合征6型","synonyms":["PMPCB基因缺陷"]},"tr":{"name":"Çoklu mitokondriyal disfonksiyon sendromu tip 6","synonyms":["PMPCB eksikliği"]}},"xrefs":[{"source":"OMIM","code":"617954","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E88.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C53.21","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0054785","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4693741","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":183500,"name":"Genetic neurodegenerative disease","classifications":[156]},{"orpha":289573,"name":"Multiple mitochondrial dysfunctions syndrome","classifications":[150,156,181]},{"orpha":182070,"name":"Rare neurodegenerative disease","classifications":[181]}],"children":[],"genes":[{"symbol":"PMPCB","name":"peptidase, mitochondrial processing subunit beta","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29576218[PMID]","hgnc":"9119","ensembl":"ENSG00000105819","omim":"603131","loci":["7q22.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"29576218[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_29576218[PMID]"}],"phenotypes":null}