{"orpha":369897,"name":"Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["mtDNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies"],"definition":"A rare mitochondrial DNA depletion syndrome characterized by congenital or early-onset lactic acidosis, hypotonia, and severe global developmental delay with feeding difficulties and failure to thrive. It is frequently associated with variable dysmorphic facial features. Additional manifestations include seizures, movement disorders, and cardiac and ophthalmologic anomalies, among others. Brain imaging may show generalized atrophy and white matter abnormalities.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-369897/","orphanet_url":"https://www.orpha.net/en/disease/detail/369897","names":{"fr":{"name":"Syndrome de déplétion de l'ADN mitochondrial, forme encéphalomyopathique avec anomalies craniofaciales variables","synonyms":["Syndrome de déplétion de l'ADNmt, forme encéphalomyopathique avec anomalies craniofaciales variables"],"definition":"Syndrome rare de déplétion de l'ADN mitochondrial caractérisé par une acidose lactique congénitale ou précoce, une hypotonie et un retard de développement global sévère, des difficultés à s'alimenter et un retard de croissance staturo-pondérale. L'association avec une dysmorphie faciale variable est fréquemment observée. Les autres signes cliniques incluent, entre autres, des crises convulsives, des mouvements anormaux et des malformations cardiaques et ophtalmologiques. L'IRM peut mettre en évidence une atrophie généralisée et des anomalies de la substance blanche."},"de":{"name":"Mitochondriales DNA-Depletionssyndrom, enzephalomyopathische Form mit variablen kraniofazialen Anomalien","synonyms":["mtDNA-Depletionssyndrom, enzephalomyopathische Form mit variablen kraniofazialen Anomalien"],"definition":"Ein seltenes mitochondriales DNA-Depletionssyndrom, das durch angeborene oder früh einsetzende Laktatazidose, Hypotonie und schwere globale Entwicklungsverzögerung mit Fütterungsschwierigkeiten und Gedeihstörung gekennzeichnet ist. Es wird häufig mit variablen Gesichtsdysmorphien in Verbindung gebracht. Zu den weiteren Erscheinungsformen gehören unter anderem Krampfanfälle, Bewegungsstörungen sowie kardiale und ophthalmologische Anomalien. Die Bildgebung des Gehirns kann eine generalisierte Atrophie und Anomalien der weißen Substanz zeigen."},"es":{"name":"Síndrome de depleción del ADN mitocondrial, forma encefalomiopática con anomalías craneofaciales variables","synonyms":["Síndrome de depleción del ADNmt, forma encefalomiopática con anomalías craneofaciales variables"],"definition":"Es un síndrome de depleción del ADN mitocondrial poco frecuente caracterizado por acidosis láctica congénita o de inicio temprano, hipotonía y retraso del desarrollo global grave con dificultades para alimentarse y fallo de medro. Con frecuencia se asocia con rasgos faciales dismórficos variables. Otras manifestaciones adicionales incluyen crisis, trastornos del movimiento y anomalías cardíacas y oftalmológicas, entre otras. Las imágenes cerebrales pueden mostrar atrofia generalizada y anomalías de la sustancia blanca."},"it":{"name":"Sindrome da deplezione del DNA mitocondriale, forma encefalomiopatica con anomalie craniofacciali variabili","synonyms":["Sindrome da deplezione del mtDNA , forma encefalomiopatica con anomalie craniofacciali variabili"],"definition":"Si tratta di una sindrome rara da deplezione del DNA mitocondriale, caratterizzata da acidosi lattica congenita o ad esordio precoce, ipotonia e grave ritardo dello sviluppo globale con difficoltà di alimentazione e ritardo della crescita. Spesso si associa a dismorfismi facciali di vario tipo. Altri segni clinici sono le crisi epilettiche, i disturbi del movimento e le anomalie cardiache e oculari. Le neuroimmagini mostrano un'atrofia generalizzata del cervello e anomalie della sostanza bianca."},"nl":{"name":"Mitochondriaal DNA-depletiesyndroom, encefalomyopathische vorm met variabele craniofaciale anomalieën","synonyms":["mtDNA-depletiesyndroom, encefalomyopathische vorm met variabele craniofaciale anomalieën"],"definition":"Een zeldzaam mitochondriaal DNA-depletiesyndroom, gekarakteriseerd door congenitale of vroeg aanvangende lactaatacidose, hypotonie, en ernstige algehele ontwikkelingsachterstand met voedingsproblemen en groeifalen. Deze aandoening is vaak geassocieerd met variabele dysmorfe gelaatskenmerken. Bijkomende manifestaties zijn onder meer insulten, bewegingsstoornissen, en hart- en ooganomalieën. Beeldvorming van hersenen toont mogelijk gegeneraliseerde atrofie en afwijkingen van witte stof."},"pt":{"name":"Síndrome de depleção do ADN mitocondrial, forma encefalomiopática com anomalias craniofaciais variáveis","synonyms":["Síndrome de depleção do ADNmt, forma encefalomiopática com anomalias craniofaciais variáveis"]},"pl":{"name":"Zespół deplecji mitochondrialnego DNA, postać encefalomiopatyczna ze zróżnicowanymi wadami twarzoczaszki","synonyms":["Zespół deplecji mtDNA, postać encefalomiopatyczna ze zróżnicowanymi wadami twarzoczaszki"]},"cs":{"name":"Syndrom deplece mitochondriální DNA, encefalomyopatická forma s variabilními kraniofaciálními anomáliemi","synonyms":["Syndrom deplece mtDNA, encefalomyopatická forma s variabilními kraniofaciálními anomáliemi"]},"uk":{"name":"Синдром виснаження мітохондріальної ДНК, енцефаломіопатична форма з варіабельними черепно-лицьовими аномаліями","synonyms":["Синдром виснаження мтДНК, енцефаломіопатична форма з варіабельними черепно-лицьовими аномаліями"],"definition":"A rare mitochondrial DNA depletion syndrome characterized by congenital or early-onset lactic acidosis, hypotonia, and severe global developmental delay with feeding difficulties and failure to thrive. It is frequently associated with variable dysmorphic facial features. Additional manifestations include seizures, movement disorders, and cardiac and ophthalmologic anomalies, among others. Brain imaging may show generalized atrophy and white matter abnormalities."},"zh":{"name":"线粒体DNA耗竭综合征脑肌病型伴多种颅面异常","synonyms":["mtDNA耗竭综合征伴脑肌病型伴多种颅面异常"],"definition":"本病是一种罕见的线粒体DNA耗竭综合症，以先天性或早发性乳酸血症、肌张力低下和严重的全面发育延迟为特征，并伴有进食困难和发育停滞。本病经常与多种变形的面部特征有关。本病的其他表现包括癫痫发作、运动障碍、心脏和眼部异常等。脑成像可显示广泛性萎缩和白质异常。"},"tr":{"name":"Mitokondriyal DNA tükenme sendromu, çeşitli kraniyofasiyal anomaliler ile seyreden ensefalomiyopatik form","synonyms":["Değişken kraniyofasyal anomaliler ile seyreden mtDNA deplesyon sendromu, ensefalomyopatik form"]}},"xrefs":[{"source":"OMIM","code":"615471","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E88.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C53.20","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0014198","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679913","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"13298","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":254803,"name":"Mitochondrial DNA depletion syndrome, encephalomyopathic form","classifications":[150,156,181]}],"children":[],"genes":[{"symbol":"FBXL4","name":"F-box and leucine rich repeat protein 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"23993193[PMID]_23993194[PMID]","hgnc":"13601","ensembl":"ENSG00000112234","omim":"605654","loci":["6q16.1-q16.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":20.0,"area":"Worldwide","status":"Validated","source":"23993193[PMID]_23993194[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}