{"orpha":319509,"name":"Combined oxidative phosphorylation defect type 9","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["COXPD9"],"definition":"Combined oxidative phosphorylation defect type 9 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by initially normal growth and development followed by the infantile-onset of failure to thrive, psychomotor delay, poor feeding, dyspnea, severe hypertrophic cardiomyopathy and hepatomegaly. Laboratory studies report increased plasma lactate and alanine, abnormal liver enzymes and decreased activity of mitochondrial respiratory chain complexes I, III, IV, and V.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-319509/","orphanet_url":"https://www.orpha.net/en/disease/detail/319509","names":{"fr":{"name":"Déficit combiné de la phosphorylation oxydative type 9","synonyms":["COXPD9"],"definition":"Le déficit combiné de la phosphorylation oxydative type 9 est une maladie mitochondriale rare causée par un trouble de la synthèse protéique mitochondriale. Il se caractérise par une croissance et un développement initialement normaux, suivi par l'apparition au cours de la petite enfance d'un retard de croissance staturo-pondérale, un retard psychomoteur, des troubles de l'alimentation, une dyspnée, une cardiomyopathie hypertrophique sévère et une hépatomégalie. Les analyses biologiques révèlent une augmentation des taux plasmatiques de lactate et d'alanine, des taux anormaux d'enzymes hépatiques et une diminution de l'activité des complexes I, III, IV et V de la chaîne respiratoire mitochondriale."},"de":{"name":"Kombinierter Defekt der oxidativen Phosphorylierung Typ 9","synonyms":["COXPD9"],"definition":"Der Kombinierte Defekt der oxidativen Phosphorylierung Typ 9 ist eine seltene mitochondriale Erkrankung, die auf einem Defekt in der mitochondrialen Proteinsynthese beruht. Sie manifestiert sich im Kindesalter und ist gekennzeichnet durch anfänglich normales Wachstum und Entwicklung, gefolgt von Gedeihstörung, psychomotorischer Verzögerung, schlechter Nahrungsaufnahme, Dyspnoe, schwerer hypertropher Kardiomyopathie und Hepatomegalie. Die Laboruntersuchungen zeigen erhöhtes Plasmalaktat und Alanin, veränderte Leberenzyme und verminderter Aktivität der mitochondrialen Atmungskettenkomplexe I, III, IV und V."},"es":{"name":"Deficiencia combinada de la fosforilación oxidativa tipo 9","synonyms":["COXPD9"],"definition":"La deficiencia combinada de fosforilación oxidativa tipo 9 es una enfermedad mitocondrial poco frecuente debida a un defecto en la síntesis de proteínas mitocondriales. Está caracterizada por un crecimiento y desarrollo inicialmente normal seguido del inicio durante la infancia de falta de crecimiento, retraso psicomotor, mala alimentación, disnea, miocardiopatía hipertrófica severa y hepatomegalia. Los estudios de laboratorio revelan un aumento de lactato y alanina en plasma, niveles alterados de enzimas hepáticas y disminución de la actividad de los complejos I, III, IV y V de la cadena respiratoria mitocondrial."},"it":{"name":"Difetto combinato della fosforilazione ossidativa, tipo 9","synonyms":["COXPD9"],"definition":"Il difetto combinato della fosforilazione ossidativa tipo 9 è una malattia rara dei mitocondri causata da un difetto della sintesi della proteina mitocondriale. È caratterizzato da una crescita e uno sviluppo inizialmente normali, seguiti dal ritardo della crescita, ritardo psicomotorio, difficoltà di alimentazione, dispnea, cardiomiopatia ipertrofica grave ed epatomegalia ad esordio infantile. Gli esami di laboratorio evidenziano un aumento dei livelli di lattato e di alanina nel plasma, anomalie degli enzimi epatici e riduzione dell'attività dei complessi della catena respiratoria mitocondriale I, III, IV e V."},"nl":{"name":"Gecombineerde oxidatieve fosforylatiedeficiëntie type 9","synonyms":["COXPD9","Gecombineerd defect in oxidatieve fosforylering type 9"],"definition":"Gecombineerde oxidatieve fosforylatiedeficiëntie type 9 is een zeldzame mitochondriale ziekte als gevolg van een defect in de mitochondriale proteïnesynthese die gekarakteriseerd wordt door initieel normale groei en ontwikkeling, gevolgd door in de zuigelingentijd aanvangende groeiachterstand, psychomotorische achterstand, slecht eten, dyspneu, ernstige hypertrofische cardiomyopathie en hepatomegalie. Laboratoriumstudies rapporteren verhoogde gehaltes van lactaat en alanine in het plasma, abnormale leverenzymen en verminderde activiteit van complexen I, III, IV en V van de mitochondriale ademhalingsketen."},"pt":{"name":"Defeito combinado da fosforilação oxidativa, tipo 9"},"pl":{"name":"Złożony defekt fosforylacji oksydacyjnej typu 9","synonyms":["COXPD9"]},"cs":{"name":"Kombinovaná porucha oxidativní fosforylace, typ 9","synonyms":["COXPD9"]},"uk":{"name":"Комбінований дефект окисного фосфорилювання, тип 9","synonyms":["COXPD9"],"definition":"Combined oxidative phosphorylation defect type 9 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by initially normal growth and development followed by the infantile-onset of failure to thrive, psychomotor delay, poor feeding, dyspnea, severe hypertrophic cardiomyopathy and hepatomegaly. Laboratory studies report increased plasma lactate and alanine, abnormal liver enzymes and decreased activity of mitochondrial respiratory chain complexes I, III, IV, and V."},"zh":{"name":"复合氧化磷酸化缺陷9型","synonyms":["COXPD9"],"definition":"联合氧化磷酸化缺陷9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，其特征为生命初期生长和发育正常，随后婴儿期起病，症状包括生长发育迟滞，精神运动延迟，喂养不良，呼吸困难，重度肥厚性心肌病和肝肿大。实验室研究报告显示血浆乳酸和丙氨酸增加，肝酶异常，线粒体呼吸链复合体I, III, IV和 V活性降低。"},"tr":{"name":"Kombine oksidatif fosforilasyon defekti tip 9","synonyms":["COXPD9"]}},"xrefs":[{"source":"OMIM","code":"614582","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":"0013811","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4706315","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]}],"children":[],"genes":[{"symbol":"MRPL3","name":"mitochondrial ribosomal protein L3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21786366[PMID]","hgnc":"10379","ensembl":"ENSG00000114686","omim":"607118","loci":["3q22.1"]}],"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":"21786366[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_21786366[PMID]"}],"phenotypes":null}