{"orpha":478029,"name":"Combined oxidative phosphorylation defect type 29","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["COXPD29"],"definition":"A rare mitochondrial oxidative phosphorylation disorder characterized by microcephaly, global developmental delay, spastic-dystonic movement disorder, intractable seizures, optic atrophy, autonomic dysfunction, and peripheral neuropathy. Serum lactate is increased, and muscle biopsy shows decreased activity of mitochondrial respiratory complexes I and III. Brain imaging reveals progressive cerebellar atrophy and delayed myelination.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-478029/","orphanet_url":"https://www.orpha.net/en/disease/detail/478029","names":{"fr":{"name":"Déficit combiné de la phosphorylation oxydative type 29","synonyms":["COXPD29"],"definition":"Anomalie rare de la phosphorylation oxydative mitochondriale caractérisée par une microcéphalie, un retard global de développement, des troubles du mouvement tels qu'une spasticité ou une dystonie, des crises convulsives ne répondant pas au traitement, une atrophie optique, un dysfonctionnement du système nerveux autonome et une neuropathie périphérique. Le taux de lactate sérique est augmenté, et la biopsie musculaire montre une diminution de l'activité des complexes I et III de la chaîne respiratoire mitochondriale. L'imagerie cérébrale révèle une atrophie cérébelleuse progressive et un retard de myélinisation."},"de":{"name":"Kombinierter Defekt der oxidativen Phosphorylierung Typ 29","synonyms":["COXPD29"],"definition":"Eine seltene mitochondriale Störung der oxidativen Phosphorylierung, die durch Mikrozephalie, globale Entwicklungsverzögerung, spastisch-dystonische Bewegungsstörungen, hartnäckige Krampfanfälle, Optikusatrophie, autonome Dysfunktion und periphere Neuropathie gekennzeichnet ist. Das Serumlaktat ist erhöht, und die Muskelbiopsie zeigt eine verminderte Aktivität der mitochondrialen Atmungskomplexe I und III. Die Bildgebung des Gehirns zeigt eine fortschreitende Atrophie des Kleinhirns und eine verzögerte Myelinisierung."},"es":{"name":"Deficiencia combinada de la fosforilación oxidativa tipo 29","synonyms":["COXPD29"],"definition":"Es un trastorno poco frecuente de la fosforilación oxidativa mitocondrial caracterizado por microcefalia, retraso global del desarrollo, trastorno espástico-distónico del movimiento, convulsiones intratables, atrofia óptica, disfunción autonómica y neuropatía periférica. El lactato sérico está aumentado y la biopsia muscular muestra una disminución de la actividad de los complejos I y III de la cadena respiratoria mitocondrial. La neuroimagen revela atrofia cerebelosa progresiva y un retraso de la mielinización."},"it":{"name":"Deficit combinato della fosforilazione ossidativa tipo 29","definition":"Si tratta di un difetto raro della fosforilazione ossidativa mitocondriale, caratterizzato da microcefalia, ritardo dello sviluppo globale, anomalie spastico-distoniche del movimento, crisi epilettiche non trattabili, atrofia ottica, disfunzione del sistema autonomo e neuropatia periferica. I livelli di lattato nel siero sono elevati, e la biopsia muscolare evidenzia una riduzione dell'attività dei complessi respiratori mitocondriali I e III. Le neuroimmagini mostrano atrofia cerebellare progressiva e ritardo della mielinizzazione."},"nl":{"name":"Gecombineerde oxidatieve fosforylatiedeficiëntie type 29","synonyms":["COXPD29","Gecombineerde oxidatieve fosforyleringdeficiëntie type 29"],"definition":"Een zeldzame mitochondriale oxidatieve fosforylatiestoornis, gekarakteriseerd door microcefalie, algehele ontwikkelingsachterstand, spastisch-dystonische bewegingsstoornis, refractaire insulten, opticusatrofie, autonome disfunctie, en perifere neuropathie. Het lactaatgehalte in serum is verhoogd, en spierbiopsie toont verminderde activiteit van complexen I en III van de mitochondriale ademhalingsketen. Beeldvorming van hersenen toont progressieve cerebellaire atrofie en vertraagde myelinisatie."},"pt":{"name":"Défice combinado da fosforilação oxidativa tipo 29"},"pl":{"name":"Złożony defekt fosforylacji oksydacyjnej typu 29","synonyms":["COXPD29"]},"cs":{"name":"Kombinovaný defekt oxidativní fosforylace, typ 29","synonyms":["COXPD29"]},"uk":{"name":"Комбінований дефект окисного фосфорилювання, тип 29","synonyms":["COXPD29"],"definition":"A rare mitochondrial oxidative phosphorylation disorder characterized by microcephaly, global developmental delay, spastic-dystonic movement disorder, intractable seizures, optic atrophy, autonomic dysfunction, and peripheral neuropathy. Serum lactate is increased, and muscle biopsy shows decreased activity of mitochondrial respiratory complexes I and III. Brain imaging reveals progressive cerebellar atrophy and delayed myelination."},"zh":{"name":"复合氧化磷酸化缺陷29型","synonyms":["COXPD29"]},"tr":{"name":"Kombine oksidatif fosforilasyon defekti tip 29","synonyms":["COXPD29"]}},"xrefs":[{"source":"OMIM","code":"616811","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,"icd11_uri":"null"},{"source":"MONDO","code":"0014781","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5567607","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":35696,"name":"Mitochondrial disorder due to a defect in mitochondrial protein synthesis","classifications":[150,156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":182070,"name":"Rare neurodegenerative disease","classifications":[181]}],"children":[],"genes":[{"symbol":"TXN2","name":"thioredoxin 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"26626369[PMID]","hgnc":"17772","ensembl":"ENSG00000100348","omim":"609063","loci":["22q12.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"26626369[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26626369[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-02-15","source":"26626369[PMID]","terms":[{"hpo":"HP:0012332","label":"Abnormal autonomic nervous system physiology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003808","label":"Abnormal muscle tone","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0040078","label":"Axonal degeneration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002069","label":"Bilateral tonic-clonic seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011923","label":"Decreased activity of mitochondrial complex I","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011924","label":"Decreased activity of mitochondrial complex III","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012448","label":"Delayed myelination","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100275","label":"Diffuse cerebellar atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002579","label":"Gastrointestinal dysmotility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030884","label":"Gastrojejunal tube feeding in infancy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002283","label":"Global brain atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002490","label":"Increased CSF lactate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002922","label":"Increased CSF protein concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002151","label":"Increased circulating lactate concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003739","label":"Myoclonic spasms","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002180","label":"Neurodegeneration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001138","label":"Optic neuropathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002370","label":"Poor coordination","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011451","label":"Primary microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000488","label":"Retinopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011344","label":"Severe global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002416","label":"Subependymal cysts","frequency":"Very frequent (99-80%)","criteria":null}]}}