{"orpha":319514,"name":"Combined oxidative phosphorylation defect type 13","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["COXPD13"],"definition":"Combined oxidative phosphorylation defect type 13 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by normal early development followed by the sudden onset in infancy of poor feeding, dysphagia, truncal (followed by global) hypotonia, motor regression, abnormal movements (i.e. severe dystonia of limbs, choreoathetosis, facial dyskinesias) and reduced tendon reflexes. The disease course is severe but nonprogressive.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-319514/","orphanet_url":"https://www.orpha.net/en/disease/detail/319514","names":{"fr":{"name":"Déficit combiné de la phosphorylation oxydative type 13","synonyms":["COXPD13"],"definition":"Le déficit combiné de la phosphorylation oxydative type 13 est une maladie mitochondriale rare causée par un trouble de la synthèse protéique mitochondriale. Il se caractérise par un début de développement normal, suivi par l'apparition soudaine dans la petite enfance de troubles de l'alimentation, d'une dysphagie, une hypotonie troncale (puis globale), une régression motrice, des mouvements anormaux (par ex. dystonie sévère des membres, choréoathétose, dyskinésie faciale) et une réduction des réflexes tendineux. L'évolution de la maladie est sévère mais non progressive."},"de":{"name":"Kombinierter Defekt der oxidativen Phosphorylierung Typ 13","synonyms":["COXPD13"],"definition":"Der kombinierte Defekt der oxidativen Phosphorylierung Typ 13 ist eine seltene mitochondriale Erkrankung, die auf einem Defekt in der mitochondrialen Proteinsynthese beruht. Sie ist gekennzeichnet durch eine anfänglich normale frühe Entwicklungsphase, gefolgt von einem plötzlichen Auftreten von Symptomen im Kindesalter, die sich mit schlechter Nahrungsaufnahme, Dysphagie, trunkaler (gefolgt von globaler) Hypotonie, motorischer Regression, abnormalen Bewegungen (d.h. schwere Dystonie der Gliedmaßen, Choreoathetose, Gesichtsdyskinesien) und reduzierten Sehnenreflexen manifestieren. Der Krankheitsverlauf ist schwer, aber nicht progredient."},"es":{"name":"Deficiencia combinada de la fosforilación oxidativa tipo 13","synonyms":["COXPD13"],"definition":"La deficiencia combinada de la fosforilación oxidativa tipo 13 es una enfermedad mitocondrial poco frecuente debida a un defecto en la síntesis de proteínas mitocondriales. Está caracterizada por un desarrollo temprano normal seguido de la aparición repentina de alimentación deficiente, disfagia, hipotonía troncal (y más tarde, generalizada), regresión motora, movimientos anómalos (es decir, distonía severa de las extremidades, coreoatetosis, discinesias faciales) y reflejos tendinosos reducidos. El curso de la enfermedad es grave pero no-progresivo."},"it":{"name":"Difetto combinato della fosforilazione ossidativa, tipo 13","synonyms":["COXPD13"],"definition":"Il difetto combinato della fosforilazione ossidativa tipo 13 è una malattia rara dei mitocondri causata da un difetto della sintesi della proteina mitocondriale. È caratterizzato da uno sviluppo iniziale normale, seguito dall'insorgenza improvvisa, durante l'infanzia, di difficoltà di alimentazione, disfagia, ipotonia del tronco (seguita da ipotonia globale), regressione motoria, anomalie del movimento (grave distonia degli arti, coreoatetosi, discinesia del volto) e riduzione dei riflessi tendinei. Il decorso della malattia è grave ma non progressivo."},"nl":{"name":"Gecombineerde oxidatieve fosforylatiedeficiëntie type 13","synonyms":["COXPD13","Gecombineerd defect in oxidatieve fosforylering type 13"],"definition":"Gecombineerde oxidatieve fosforylatiedeficiëntie type 13 is een zeldzame mitochondriale ziekte als gevolg van een defect in de mitochondriale proteïnesynthese die gekarakteriseerd wordt door een normale vroege ontwikkeling, gevolgd door plotse aanvang in de zuigelingentijd van slecht eten, dysfagie, hypotonie van de romp (gevolgd door globale hypotonie), motorische regressie, abnormale bewegingen (i.e. ernstige dystonie van de ledematen, choreoathetose, faciale dyskinesieën) en verminderde peesreflexen. Het ziekteverloop is ernstig maar niet-progressief."},"pt":{"name":"Defeito combinado da fosforilação oxidativa, tipo 13"},"pl":{"name":"Złożony defekt fosforylacji oksydacyjnej typu 13","synonyms":["COXPD13"]},"cs":{"name":"Kombinovaná porucha oxidativní fosforylace, typ 13","synonyms":["COXPD13"]},"uk":{"name":"Комбінований дефект окисного фосфорилювання, тип 13","synonyms":["COXPD13"],"definition":"Combined oxidative phosphorylation defect type 13 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by normal early development followed by the sudden onset in infancy of poor feeding, dysphagia, truncal (followed by global) hypotonia, motor regression, abnormal movements (i.e. severe dystonia of limbs, choreoathetosis, facial dyskinesias) and reduced tendon reflexes. The disease course is severe but nonprogressive."},"zh":{"name":"复合氧化磷酸化缺陷型13型","synonyms":["COXPD13"],"definition":"联合氧化磷酸化缺陷13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，其特征为早期发育正常，随后在婴儿期突然出现喂养不良、吞咽困难、躯干(随后是全身)张力低下、运动退化、异常运动(即严重的肢体肌张力障碍、舞蹈症、面部运动障碍)和肌腱反射减少。病程严重但无进展。"},"tr":{"name":"Kombine oksidatif fosforilasyon defekti tip 13","synonyms":["COXPD13"]}},"xrefs":[{"source":"OMIM","code":"614932","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":"0013977","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4706283","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":"PNPT1","name":"polyribonucleotide nucleotidyltransferase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23084291[PMID]","hgnc":"23166","ensembl":"ENSG00000138035","omim":"610316","loci":["2p16.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"23084291[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_23084291[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-08-02","source":"30046113[PMID]_23084291[PMID]","terms":[{"hpo":"HP:0002151","label":"Increased circulating lactate concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200125","label":"Mitochondrial respiratory chain defects","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010994","label":"Abnormal corpus striatum morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008936","label":"Axial hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001266","label":"Choreoathetosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012448","label":"Delayed myelination","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002490","label":"Increased CSF lactate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002451","label":"Limb dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002421","label":"Poor head control","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007069","label":"Profound static encephalopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002134","label":"Abnormal basal ganglia morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001273","label":"Abnormal corpus callosum morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000496","label":"Abnormality of eye movement","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001344","label":"Absent speech","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006466","label":"Ankle flexion contracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000762","label":"Decreased nerve conduction velocity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000519","label":"Developmental cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040204","label":"Elevated CSF neopterin level","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011471","label":"Gastrostomy tube feeding in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003273","label":"Hip contracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006895","label":"Lower limb hypertonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002310","label":"Orofacial dyskinesia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000763","label":"Sensory neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003548","label":"Subsarcolemmal accumulations of abnormally shaped mitochondria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003803","label":"Type 1 muscle fiber predominance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003554","label":"Type 2 muscle fiber atrophy","frequency":"Occasional (29-5%)","criteria":null}]}}