{"orpha":254930,"name":"Combined oxidative phosphorylation defect type 7","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Severe C12ORF65-related combined oxidative phosphorylation defect","COXPD7","Severe C12ORF65-related COXPD"],"definition":"Combined oxidative phosphorylation defect type 7 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by a variable phenotype that includes onset in infancy or early childhood of failure to thrive and psychomotor regression (after initial normal development), as well as ocular manifestations (such as ptosis, nystagmus, optic atrophy, ophthalmoplegia and reduced vision). Additional manifestations include bulbar paresis with facial weakness, hypotonia, difficulty chewing, dysphagia, mild dysarthria, ataxia, global muscle atrophy, and areflexia. It has a relatively slow disease progression with patients often living into the third decade of life.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-254930/","orphanet_url":"https://www.orpha.net/en/disease/detail/254930","names":{"fr":{"name":"Déficit combiné de la phosphorylation oxydative type 7","synonyms":["COXPD7","Déficit combiné de la phosphorylation oxydative associé à C12ORF65, forme sévère"],"definition":"Le déficit combiné de la phosphorylation oxydative type 7 est une maladie mitochondriale rare causée par un trouble de la synthèse protéique mitochondriale. Il se caractérisée par un phénotype variable qui inclut l'apparition, au cours de la petite enfance ou tôt dans l'enfance, d'un retard de croissance staturo-pondérale et d'une régression psychomotrice (après un développement initial normal), ainsi que par des manifestations oculaires (ptosis, nystagmus, atrophie optique, ophtalmoplégie, réduction de la vision). Les signes additionnels incluent une parésie bulbaire avec faiblesse faciale, une hypotonie, un trouble de la mastication, une dysphagie, une dysarthrie légère, une ataxie, une atrophie musculaire globale et une aréflexie. La progression de la maladie est relativement lente, les patients vivant souvent jusqu'à la troisième décennie."},"de":{"name":"Kombinierter Defekt der oxidativen Phosphorylierung Typ 7","synonyms":["COXPD7","OXPHOS-Defekt, kombinierter schwerer, C12ORF65-assoziierter"],"definition":"Der kombinierte Defekt der oxidativen Phosphorylierung Typ 7 ist eine seltene mitochondriale Erkrankung mit Beginn im Säuglings- oder frühen Kindesalter, die auf einem Defekt in der mitochondrialen Proteinsynthese beruht und durch einen variablen Phänotyp gekennzeichnet ist. Die Krankheit manifestiert sich mit Gedeihstörung und psychomotorischer Regression (nach anfänglich normaler Entwicklung) sowie okuläre Auffälligkeiten (wie Ptosis, Nystagmus, Optikusatrophie, Ophthalmoplegie und vermindertes Sehvermögen) umfasst. Weitere Merkmale sind Bulbärparese mit Gesichtsschwäche, Hypotonie, Schwierigkeiten beim Kauen, Dysphagie, leichte Dysarthrie, Ataxie, globale Muskelatrophie und Areflexie. Die Krankheit hat einen relativ langsamen Verlauf, wobei die Patienten oft bis ins dritte Lebensjahrzehnt leben."},"es":{"name":"Deficiencia combinada de la fosforilación oxidativa tipo 7","synonyms":["COXPD grave asociada a C12ORF65","COXPD7","Deficiencia combinada de la fosforilación oxidativa grave asociada a C12ORF65"],"definition":"La deficiencia combinada de la fosforilación oxidativa tipo 7 es una enfermedad mitocondrial poco frecuente debida a un defecto en la síntesis de proteínas mitocondriales caracterizado por un fenotipo variable que incluye un inicio en la lactancia o infancia temprana de falta de crecimiento y regresión psicomotriz (después de un desarrollo inicial normal), así como manifestaciones oculares (tales como ptosis, nistagmo, atrofia óptica, oftalmoplejía y visión reducida). Otras manifestaciones adicionales incluyen paresia bulbar con debilidad facial, hipotonía, dificultad para masticar, disfagia, leve disartria, ataxia, atrofia muscular generalizada y arreflexia. Es una enfermedad de progresión relativamente lenta con individuos afectados que a menudo sobreviven hasta la tercera década de vida."},"it":{"name":"Difetto combinato della fosforilazione ossidativa, tipo 7","synonyms":["COXPD7"],"definition":"Il difetto combinato della fosforilazione ossidativa tipo 7 è una malattia rara dei mitocondri causata da un difetto della sintesi della proteina mitocondriale. È caratterizzato da un quadro clinico variabile che esordisce nel periodo neonatale o nella prima infanzia con ritardo della crescita e regressione psicomotoria (dopo uno sviluppo iniziale normale), segni clinici oculari (ptosi, nistagmo, atrofia ottica, oftalmoplegia e riduzione della vita). Altri segni sono la paresi bulbare con debolezza facciale, l'ipotonia, le difficoltà della masticazione, la disfagia, la disartria lieve, l'atassia, l'atassia muscolare globale e l'areflessia. La progressione è relativamente lenta e i pazienti spesso sopravvivono fino alla terza decade di vita."},"nl":{"name":"Gecombineerde oxidatieve fosforylatiedeficiëntie type 7","synonyms":["COXPD7","Ernstige C12ORF65-gerelateerde COXPD","Ernstige C12ORF65-gerelateerde gecombineerde oxidatieve fosforylatiedeficiëntie","Gecombineerd defect in oxidatieve fosforylering type 7"],"definition":"Gecombineerde oxidatieve fosforylatiedeficiëntie type 7 is een zeldzame mitochondriale ziekte als gevolg van een defect in de mitochondriale proteïnesynthese, en wordt gekarakteriseerd door een variabel fenotype met onder meer aanvang in de zuigelingentijd of vroege kindertijd van groeifalen en psychomotorische regressie (na een initieel normale ontwikkeling), alsook oculaire manifestaties (zoals ptosis, nystagmus, opticusatrofie, oftalmoplegie en functieverlies van het zicht). Bijkomende manifestaties zijn onder meer bulbaire parese met zwakte van aangezichtsspieren, hypotonie, moeilijkheden met kauwen, dysfagie, milde dysartrie, ataxie, gegeneraliseerde spieratrofie, en areflexie. De ziekte heeft een relatief trage progressie en patiënten overleven vaak tot in hun derde levensdecennium."},"pt":{"name":"Deficiência combinada da fosforilação oxidativa, tipo 7","synonyms":["COXPD7"]},"pl":{"name":"Złożony defekt fosforylacji oksydacyjnej typu 7","synonyms":["COXPD7"]},"cs":{"name":"Kombinovaný defekt oxidativní fosforylace, typ 7","synonyms":["COXPD7"]},"uk":{"name":"Комбінований дефект окисного фосфорилювання, тип 7","synonyms":["COXPD7","Тяжкий комбінований дефект окисного фосфорилювання, повязаний з C12ORF65","Тяжке COXPD, повязане з C12ORF65"],"definition":"Combined oxidative phosphorylation defect type 7 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by a variable phenotype that includes onset in infancy or early childhood of failure to thrive and psychomotor regression (after initial normal development), as well as ocular manifestations (such as ptosis, nystagmus, optic atrophy, ophthalmoplegia and reduced vision). Additional manifestations include bulbar paresis with facial weakness, hypotonia, difficulty chewing, dysphagia, mild dysarthria, ataxia, global muscle atrophy, and areflexia. It has a relatively slow disease progression with patients often living into the third decade of life."},"zh":{"name":"结合氧化磷酸化不足7","synonyms":["严重C12ORF65基因相关联合氧化磷酸化缺陷症"],"definition":"联合氧化磷酸化缺陷症-7型是一种罕见的线粒体疾病，是由于线粒体蛋白质合成缺陷引起的，其特征是表型多变，包括最初的正常发育之后，在婴儿期或儿童期出现发育迟缓和精神运动衰退，以及眼部表现(如上睑下垂、眼球震颤、视神经萎缩、眼肌麻痹和视力下降)。其他表现包括伴有面部无力的球麻痹、肌张力低下、咀嚼困难、吞咽困难、轻度构音障碍、共济失调、全身性肌肉萎缩和反射障碍。它的疾病进展相对缓慢，患者通常可以活到第三个十年。"},"tr":{"name":"Kombine oksidatif fosforilasyon defekti tip 7","synonyms":["COXPD7","Ağır C12ORF65-ilişkili COXPD","Ağır C12ORF65-ilişkili kombine oksidatif fosforilasyon defekti"]}},"xrefs":[{"source":"OMIM","code":"613559","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":"index","validated":true,"icd11_uri":"1343260573"},{"source":"MONDO","code":"0013306","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3150801","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":497623,"name":"C12ORF65-related combined oxidative phosphorylation defect","classifications":[150,156,181,189]}],"children":[],"genes":[{"symbol":"MTRFR","name":"mitochondrial translation release factor in rescue","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20598281[PMID]","hgnc":"26784","ensembl":"ENSG00000130921","omim":"613541","loci":["12q24.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"24284555[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24284555[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-01-16","source":"20598281[PMID]_24424123[PMID]_28091420[PMID]_24198383[PMID]","terms":[{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007256","label":"Abnormal pyramidal sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003693","label":"Distal amyotrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002936","label":"Distal sensory impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031629","label":"Impaired tandem gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002395","label":"Lower limb hyperreflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007340","label":"Lower limb muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000602","label":"Ophthalmoplegia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003477","label":"Peripheral axonal neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002313","label":"Spastic paraparesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001123","label":"Visual field defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012747","label":"Abnormal brainstem MRI signal intensity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002500","label":"Abnormal cerebral white matter morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012696","label":"Abnormal thalamic MRI signal intensity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001284","label":"Areflexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001283","label":"Bulbar palsy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003380","label":"Decreased number of peripheral myelinated nerve fibers","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002376","label":"Developmental regression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007641","label":"Dyschromatopsia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012707","label":"Elevated brain lactate level by MRS","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0020049","label":"Exodeviation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001349","label":"Facial diplegia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008947","label":"Floppy infant","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011471","label":"Gastrostomy tube feeding in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005216","label":"Impaired mastication","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002540","label":"Inability to walk","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200136","label":"Oral-pharyngeal dysphagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002590","label":"Paralytic ileus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002943","label":"Thoracic scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003484","label":"Upper limb muscle weakness","frequency":"Occasional (29-5%)","criteria":null}]}}