{"orpha":319524,"name":"Combined oxidative phosphorylation defect type 15","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["COXPD15"],"definition":"Combined oxidative phosphorylation defect type 15 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by onset in infancy or early childhood of muscular hypotonia, gait ataxia, mild bilateral pyramidal tract signs, developmental delay (affecting mostly speech and coordination) and subsequent intellectual disability. Short stature, obesity, microcephaly, strabismus, nystagmus, reduced visual acuity, lactic acidosis, and a brain neuropathology consistent with Leigh syndrome are also reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-319524/","orphanet_url":"https://www.orpha.net/en/disease/detail/319524","names":{"fr":{"name":"Déficit combiné de la phosphorylation oxydative type 15","synonyms":["COXPD15"],"definition":"Le déficit combiné de la phosphorylation oxydative type 15 est une maladie mitochondriale rare causée par un trouble de la synthèse protéique mitochondriale. Pendant la petite enfance ou en début d'enfance, une hypotonie musculaire, une démarche ataxique, de légers signes bilatéraux de la voie pyramidale, un retard de développement (affectant surtout la parole et la coordination) et un déficit intellectuel subséquent apparaissent. Une petite taille, une obésité, une microcéphalie, un strabisme, un nystagmus, une acuité visuelle réduite, une acidose lactique et une neuropathologie cérébrale cohérente avec le syndrome de Leigh ont aussi été rapportés."},"de":{"name":"Kombinierter Defekt der oxidativen Phosphorylierung Typ 15","synonyms":["COXPD15"],"definition":"Der kombinierte Defekt der oxidativen Phosphorylierung Typ 15 ist eine seltene mitochondriale Erkrankung mit Beginn im Säuglingsalter oder in der frühen Kindheit. Sie beruht auf einem Defekt in der mitochondrialen Proteinsynthese und ist gekennzeichnet durch muskuläre Hypotonie, Gangataxie, milden bilateralen Pyramidenbahnzeichen, Entwicklungsverzögerung (vor allem Sprache und Koordination betreffend) und nachfolgender Intelligenzminderung. Ebenfalls berichtet werden Kleinwuchs, Adipositas, Mikrozephalie, Strabismus, Nystagmus, verminderte Sehschärfe, Laktatazidose und eine neuropathologische Veränderung des Gehirns, die dem des Leigh-Syndroms entsprechen."},"es":{"name":"Deficiencia combinada de la fosforilación oxidativa tipo 15","synonyms":["COXPD15"],"definition":"La deficiencia combinada de la fosforilación oxidativa tipo 15 es una enfermedad mitocondrial poco frecuente debida a un defecto en la síntesis de proteínas mitocondriales. Está caracterizada por la aparición, en la lactancia o en la infancia temprana, de hipotonía muscular, ataxia de la marcha, signos bilaterales leves del tracto piramidal, retraso del desarrollo (que afecta principalmente al habla y la coordinación) e incapacidad intelectual subsiguiente. También se ha descrito la presencia de estatura baja, obesidad, microcefalia, estrabismo, nistagmo, agudeza visual reducida, acidosis láctica y una neuropatología cerebral consistente con el síndrome de Leigh."},"it":{"name":"Difetto combinato della fosforilazione ossidativa, tipo 15","synonyms":["COXPD15"],"definition":"Il difetto combinato della fosforilazione ossidativa tipo 15 è una malattia rara dei mitocondri causata da un difetto della sintesi della proteina mitocondriale. È caratterizzato da ipotonia muscolare, andatura atassica, segni piramidali bilaterali lievi, ritardo dello sviluppo (soprattutto del linguaggio e della coordinazione) e successiva disabilità intellettiva. L'esordio si colloca nel periodo neonatale o nella prima infanzia. Sono stati descritti pazienti con bassa statura, obesità, microcefalia, strabismo, nistagmo, riduzione dell'acuità visiva, acidosi lattica e una malattia neurologica cerebrale compatibile con la sindrome di Leigh."},"nl":{"name":"Gecombineerde oxidatieve fosforylatiedeficiëntie type 15","synonyms":["COXPD15","Gecombineerd defect in oxidatieve fosforylering type 15"],"definition":"Gecombineerde oxidatieve fosforylatiedeficiëntie type 15 is zeldzame mitochondriale ziekte als gevolg van een defect in de mitochondriale proteïnesynthese en wordt gekarakteriseerd door aanvang in de zuigelingentijd of vroege kindertijd van musculaire hypotonie, gangataxie, milde bilaterale tekenen van het piramidaal systeem, ontwikkelingsachterstand (meestal van de spraak en de coördinatie) en later intellectuele invaliditeit. Een kleine gestalte, obesitas, microcefalie, strabisme, nystagmus, verminderde visus, lactaatacidose, en een neuropathologie van de hersenen consistent met syndroom van Leigh werden ook reeds gerapporteerd."},"pt":{"name":"Defeito combinado da fosforilação oxidativa, tipo 15"},"pl":{"name":"Złożony defekt fosforylacji oksydacyjnej typu 15","synonyms":["COXPD15"]},"cs":{"name":"Kombinovaná porucha oxidativní fosforylace, typ 15","synonyms":["COXPD15"]},"uk":{"name":"Комбінований дефект окисного фосфорилювання, тип 15","synonyms":["COXPD15"],"definition":"Combined oxidative phosphorylation defect type 15 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by onset in infancy or early childhood of muscular hypotonia, gait ataxia, mild bilateral pyramidal tract signs, developmental delay (affecting mostly speech and coordination) and subsequent intellectual disability. Short stature, obesity, microcephaly, strabismus, nystagmus, reduced visual acuity, lactic acidosis, and a brain neuropathology consistent with Leigh syndrome are also reported."},"zh":{"name":"复合氧化磷酸化缺陷15型","synonyms":["COXPD15"],"definition":"联合氧化磷酸化缺陷15型是一种罕见的线粒体疾病，由线粒体蛋白质合成缺陷所致，其特征为在婴儿期或幼儿期出现肌张力低下、共济失调不太、轻度双侧锥体束体征、发育迟缓(主要影响言语和协调，随后出现智力残疾。还报告了身材矮小、肥胖、小头畸形、斜视、眼球震颤、视力下降、乳酸酸中毒和与Leigh综合征一致的脑神经病理学。"},"tr":{"name":"Kombine oksidatif fosforilasyon defekti tip 15","synonyms":["COXPD15"]}},"xrefs":[{"source":"OMIM","code":"614947","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E88.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C53.23","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0013987","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4706313","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":35696,"name":"Mitochondrial disorder due to a defect in mitochondrial protein synthesis","classifications":[150,156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]}],"children":[],"genes":[{"symbol":"MTFMT","name":"mitochondrial methionyl-tRNA formyltransferase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21907147[PMID]","hgnc":"29666","ensembl":"ENSG00000103707","omim":"611766","loci":["15q22.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":16.0,"area":"Worldwide","status":"Validated","source":"24461907[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24461907[PMID]"}],"phenotypes":null}