{"orpha":444013,"name":"Combined oxidative phosphorylation defect type 23","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["COXPD23"],"definition":"A rare mitochondrial disease characterized by early onset of hypertrophic cardiomyopathy and variable neurologic symptoms including global developmental delay, hypotonia, intellectual disability, visual impairment, and seizures. Lactic acidosis is present in all patients. Muscle biopsy usually shows decreased activity of mitochondrial complexes I and IV. Brain imaging may reveal variable abnormal signal intensities in the thalamus, basal ganglia, and/or brain stem.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-444013/","orphanet_url":"https://www.orpha.net/en/disease/detail/444013","names":{"fr":{"name":"Déficit combiné de la phosphorylation oxydative type 23","synonyms":["COXPD23"],"definition":"Maladie mitochondriale rare caractérisée par l'apparition précoce d'une cardiomyopathie hypertrophique et des symptômes neurologiques variables, en particulier d'un retard global de développement, d'une hypotonie, d'une déficience intellectuelle, d'une déficience visuelle et des crises convulsives. L'acidose lactique est présente chez tous les patients. La biopsie musculaire révèle une diminution de l'activité des complexes mitochondriaux I et IV. L'IRM peut révéler des anomalies et des variations d'intensité du signal dans le thalamus, les ganglions de la base et/ou le tronc cérébral."},"de":{"name":"Kombinierter Defekt der oxidativen Phosphorylierung Typ 23","synonyms":["COXPD23"],"definition":"Eine seltene mitochondriale Erkrankung, die sich durch eine früh einsetzende hypertrophe Kardiomyopathie und variable neurologische Symptome wie globale Entwicklungsverzögerung, Hypotonie, Intelligenzminderung, Sehstörungen und Krampfanfälle auszeichnet. Eine Laktatazidose ist bei allen Patienten vorhanden. Die Muskelbiopsie zeigt in der Regel eine verminderte Aktivität der mitochondrialen Komplexe I und IV. Die Bildgebung des Gehirns kann variable abnorme Signalintensitäten im Thalamus, in den Basalganglien und/oder im Hirnstamm aufzeigen."},"es":{"name":"Deficiencia combinada de la fosforilación oxidativa tipo 23","synonyms":["COXPD23"],"definition":"Es una enfermedad mitocondrial poco frecuente caracterizada por la aparición temprana de miocardiopatía hipertrófica y síntomas neurológicos variables que incluyen retraso global del desarrollo psicomotor, hipotonía, discapacidad intelectual, discapacidad visual y crisis. La acidosis láctica está presente en todos los pacientes. La biopsia muscular suele mostrar una disminución de la actividad de los complejos mitocondriales I y IV. Las imágenes cerebrales pueden revelar intensidades de señal anómalas variables en el tálamo, los ganglios basales y/o en el tronco encefálico."},"it":{"name":"Deficit combinato della fosforilazione ossidativa tipo 23","synonyms":["COXPD23"],"definition":"Si tratta di una malattia mitocondriale rara, caratterizzata da cardiomiopatia ipertrofica ad esordio precoce e sintomi neurologici variabili che comprendono il ritardo dello sviluppo globale, l'ipotonia, la disabilità intellettiva, il deficit visivo e le crisi epilettiche. Tutti i pazienti presentano acidosi lattica. Di solito la biopsia muscolare mostra una riduzione dell'attività dei complessi mitocondriali I e IV. Le neuroimmagini mostrano anomalie variabili delle intensità del segnale nel talamo, nei gangli basali e/o nel tronco encefalico."},"nl":{"name":"Gecombineerde oxidatieve fosforylatiedeficiëntie type 23","synonyms":["COXPD23","Gecombineerde oxidatieve fosforyleringdeficiëntie type 23"],"definition":"Een zeldzame mitochondriale aandoening, gekarakteriseerd door vroege aanvang van hypertrofische cardiomyopathie en variabele neurologische symptomen waaronder algehele ontwikkelingsachterstand, hypotonie, intellectuele achterstand, verlies van gezichtsvermogen, en insulten. Lactaatacidose is aanwezig bij alle patiënten. Spierbiopsie toont meestal verminderde activiteit van de mitochondriale complexen I en IV. Beeldvorming van hersenen toont mogelijk variabele abnormale signaalintensiteiten in thalamus, basale ganglia, en/of hersenstam."},"pt":{"name":"Défice combinado da fosforilação oxidativa tipo 23"},"pl":{"name":"Złożony defekt fosforylacji oksydacyjnej typu 23","synonyms":["COXPD23"]},"cs":{"name":"Kombinovaný deficit oxidativní fosforylace, typ 23","synonyms":["COXPD23"]},"uk":{"name":"Комбінований дефект окисного фосфорилювання, тип 23","synonyms":["COXPD23"],"definition":"A rare mitochondrial disease characterized by early onset of hypertrophic cardiomyopathy and variable neurologic symptoms including global developmental delay, hypotonia, intellectual disability, visual impairment, and seizures. Lactic acidosis is present in all patients. Muscle biopsy usually shows decreased activity of mitochondrial complexes I and IV. Brain imaging may reveal variable abnormal signal intensities in the thalamus, basal ganglia, and/or brain stem."},"zh":{"name":"联合氧化磷酸化缺陷23型","synonyms":["COXPD23"],"definition":"一种罕见的线粒体疾病，其特征是早期起病的肥厚型心肌病和多种神经系统症状，包括整体发育迟缓，肌张力低下，智力障碍，视力障碍和癫痫发作。乳酸中毒存在于所有患者中。肌肉活检通常显示线粒体复合体I和IV的活性降低。脑部成像可显示丘脑，基底神经节和/或脑干中多种的异常信号。"},"tr":{"name":"Kombine oksidatif fosforilasyon defekti tip 23","synonyms":["COXPD23"]}},"xrefs":[{"source":"OMIM","code":"616198","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E88.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C53.2Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014525","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5567743","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":217587,"name":"Mitochondrial disease with hypertrophic cardiomyopathy","classifications":[146,156,233]},{"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":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"GTPBP3","name":"GTP binding protein 3, mitochondrial","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25434004[PMID]","hgnc":"14880","ensembl":"ENSG00000130299","omim":"608536","loci":["19p13.11"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":11.0,"area":"Worldwide","status":"Validated","source":"25434004[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25434004[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-12-06","source":"25434004[PMID]","terms":[{"hpo":"HP:0001639","label":"Hypertrophic cardiomyopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003128","label":"Lactic acidosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000707","label":"Abnormality of the nervous system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008947","label":"Floppy infant","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012751","label":"Abnormal basal ganglia MRI signal intensity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012747","label":"Abnormal brainstem MRI signal intensity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012696","label":"Abnormal thalamic MRI signal intensity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000961","label":"Cyanosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011923","label":"Decreased activity of mitochondrial complex I","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008347","label":"Decreased activity of mitochondrial complex IV","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003388","label":"Easy fatigability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001712","label":"Left ventricular hypertrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002415","label":"Leukodystrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012763","label":"Paroxysmal dyspnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002878","label":"Respiratory failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001667","label":"Right ventricular hypertrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012666","label":"Severely reduced ejection fraction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010307","label":"Stridor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001716","label":"Wolff-Parkinson-White syndrome","frequency":"Occasional (29-5%)","criteria":null}]}}