{"orpha":238329,"name":"Severe X-linked mitochondrial encephalomyopathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Mitochondrial encephalomyopathy due to COXPD6","Mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6"],"definition":"Severe X-linked mitochondrial encephalomyopathy is an extremely rare mitochondrial respiratory chain disease resulting in a neurodegenerative disorder characterized by psychomotor delay, hypotonia, areflexia, muscle weakness and wasting in the two patients reported to date.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-238329/","orphanet_url":"https://www.orpha.net/en/disease/detail/238329","names":{"fr":{"name":"Encéphalomyopathie mitochondriale sévère liée à l'X","synonyms":["Encéphalomyopathie mitochondriale due à COXPD6","Encéphalomyopathie mitochondriale due à un déficit combiné de la phosphorylation oxydative de type 6"],"definition":"Maladie extrêmement rare de la chaîne respiratoire mitochondriale entraînant une maladie neurodégénérative caractérisée par un retard psychomoteur, une hypotonie, une aréflexie, une faiblesse musculaire et une atrophie chez les deux patients décrits à ce jour."},"de":{"name":"Enzephalomyopathie, mitochondriale, schwere, X-chromosomale","synonyms":["COXPD6","Enzephalomyopathie, mitochondriale, durch COXPD6","Enzephalomyopathie, mitochondriale, durch kombinierten Defekt der oxidativen Phosphorylierung Typ 6"],"definition":"Die Schwere X-chromosomale mitochondriale Enzephalomyopathie ist eine extrem seltene Störung der mitochondrialen Atemkette, die bisher bei 2 Patienten beschrieben wurde. Klinische Folge ist eine neurodegenerative Erkrankung mit verzögerter psychomotorischer Entwicklung, Muskelhypotonie, Areflexie, Muskelschwäche und Muskelatrophie."},"es":{"name":"Encefalomiopatía mitocondrial grave ligada al cromosoma X","synonyms":["Encefalomiopatía mitocondrial por COXPD6","Encefalomiopatía mitocondrial por deficiencia combinada de la fosforilación oxidativa tipo 6"],"definition":"La encefalomiopatía mitocondrial grave ligada al X es una enfermedad de la cadena respiratoria mitocondrial, extremadamente poco frecuente, que resulta en un trastorno neurodegenerativo, caracterizado por retraso psicomotor, hipotonía, arreflexia, debilidad muscular y atrofia en los dos pacientes descritos hasta la fecha."},"it":{"name":"Encefalomiopatia mitocondriale grave legata all'X","synonyms":["Encefalomiopatia mitocondriale da COXPD6","Encefalomiopatia mitocondriale da difetto combinato della fosforilazione ossidativa 6"],"definition":"L'encefalomiopatia mitocondriale grave legata all'X è una malattia estremamente rara della catena respiratoria mitocondriale, che provoca una malattia neurodegenerativa caratterizzata da ritardo psicomotorio, ipotonia, areflessia, debolezza e atrofia muscolare in due dei pazienti finora descritti."},"nl":{"name":"Ernstige X-gebonden mitochondriale encefalomyopathie","synonyms":["Mitochondriale encefalomyopathie door COXPD6","Mitochondriale encefalomyopathie door gecombineerde oxidatieve fosforylatiedeficiëntie type 6"],"definition":"Een uiterst zeldzame stoornis van mitochondriale ademhalingsketen die resulteert in een neurodegeneratieve aandoening, gekenmerkt, bij de twee patiënten die tot op heden werden gerapporteerd, door psychomotorische achterstand, hypotonie, areflexie, en spierzwakte en -atrofie."},"pt":{"name":"Encefalomiopatia mitocondrial grave ligada ao X"},"pl":{"name":"Ciężka encefalomiopatia mitochondrialna sprzężona z chromosomem X","synonyms":["Encefalopatia mitochondrialna spowodowana COXPD6","Encefalomiopatia mitochondrialna spowodowana złożonym defektem fosforylacji oksydacyjne 6"]},"cs":{"name":"Těžká X-vázaná mitochondriální encefalomyopatie","synonyms":["Mitochondriální encefalomyopatie kombinovaným deficitem oxidativní fosforylace 6","Mitochondriální encefalomyopatie způsobená COXPD6"]},"uk":{"name":"Тяжка Х-зчеплена мітохондріальна енцефаломіопатія","synonyms":["Мітохондріальна енцефаломіопатія внаслідок комбінованого дефекту окисного фосфорилювання 6","Мітохондріальна енцефаломіопатія, спричинена COXPD6"],"definition":"Severe X-linked mitochondrial encephalomyopathy is an extremely rare mitochondrial respiratory chain disease resulting in a neurodegenerative disorder characterized by psychomotor delay, hypotonia, areflexia, muscle weakness and wasting in the two patients reported to date."},"zh":{"name":"重症X连锁线粒体脑肌病","synonyms":["联合氧化磷酸化缺陷6型所致重症X连锁线粒体脑肌病"],"definition":"严重的X连锁线粒体脑肌病是一种极为罕见的线粒体呼吸链疾病，导致神经退行性障碍，目前报道的两例病人特征是精神运动迟缓、肌张力低下、肌无力和消瘦。"},"tr":{"name":"Ağır X'e bağlı mitokondriyal ensefalomiyopati","synonyms":["COXPD6'ya bağlı mitokondriyal ensefalomiyopati","Kombine oksidatif fosforilasyon defekti 6'ya bağlı mitokondriyal ensefalomiyopati"]}},"xrefs":[{"source":"OMIM","code":"300816","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":"438251472"},{"source":"MONDO","code":"0010437","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4302745","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"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]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"AIFM1","name":"apoptosis inducing factor mitochondria associated 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20362274[PMID]","hgnc":"8768","ensembl":"ENSG00000156709","omim":"300169","loci":["Xq26.1"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_20362274[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"20362274[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-02-03","source":"20362274[PMID]","terms":[{"hpo":"HP:0010994","label":"Abnormal corpus striatum morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001284","label":"Areflexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003324","label":"Generalized muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003557","label":"Increased variability in muscle fiber diameter","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011343","label":"Moderate global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003390","label":"Sensory axonal neuropathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006829","label":"Severe muscular hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002376","label":"Developmental regression","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002375","label":"Hypokinesia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002490","label":"Increased CSF lactate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002151","label":"Increased circulating lactate concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003542","label":"Increased circulating pyruvate concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009025","label":"Increased connective tissue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004305","label":"Involuntary movements","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000737","label":"Irritability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002098","label":"Respiratory distress","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001308","label":"Tongue fasciculations","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Occasional (29-5%)","criteria":null}]}}