{"orpha":457185,"name":"Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["COQ4-related neonatal encephalomyopathy"],"definition":"A rare mitochondrial disease characterized by neonatal onset of severe cardiac and/or neurologic signs and symptoms mostly associated with a fatal outcome in the neonatal period or in infancy, although a milder phenotype with later onset and slowly progressive neurologic deterioration has also been reported. Clinical manifestations are variable and include respiratory insufficiency, hypotonia, cardiomyopathy, and seizures. Serum lactate is elevated in most cases. Brain imaging may show cerebellar atrophy or hypoplasia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-457185/","orphanet_url":"https://www.orpha.net/en/disease/detail/457185","names":{"fr":{"name":"Syndrome d'encéphalomyopathie néonatale-cardiomyopathie-détresse respiratoire","synonyms":["Encéphalomyopathie néonatale associée à COQ4"],"definition":"Maladie mitochondriale rare caractérisée par l'apparition néonatale de signes cliniques et de symptômes cardiaques et/ou neurologiques sévères, le plus souvent associés au décès au cours de la période néonatale ou de l'enfance, bien qu'un phénotype plus léger avec une apparition plus tardive et une détérioration neurologique lentement progressive a également été rapporté. Les signes cliniques sont variables et incluent une insuffisance respiratoire, une hypotonie, une cardiomyopathie et des crises convulsives. Le taux de lactate sérique est élevé dans la plupart des cas. L'IRM peut mettre en évidence une atrophie ou une hypoplasie cérébelleuse."},"de":{"name":"Neonatale Enzephalomyopathie-Kardiomyopathie-Atemnot-Syndrom","synonyms":["COQ4-assoziierte neonatale Enzephalomyopathie"],"definition":"Eine seltene mitochondriale Erkrankung, die durch schwere postnatale kardiale und/oder neurologische Symptome und Manifestationen gekennzeichnet ist, die meist im Neugeborenen- oder Säuglingsalter tödlich verlaufen, obwohl auch ein milderer Phänotyp mit späterem Beginn und langsam fortschreitender neurologischer Verschlechterung beschrieben wurde. Die klinischen Manifestationen sind variabel und umfassen respiratorische Insuffizienz, Hypotonie, Kardiomyopathie und Krampfanfälle. In den meisten Fällen ist das Serumlaktat erhöht. Die zerebrale Bildgebung kann eine Atrophie oder Hypoplasie des Kleinhirns zeigen."},"es":{"name":"Síndrome de encefalomiopatía-miocardiopatía-dificultad respiratoria neonatal","synonyms":["Encefalomiopatía neonatal asociada al gen COQ4"],"definition":"Es una enfermedad mitocondrial poco frecuente caracterizada por la aparición neonatal de signos y síntomas cardíacos y/o neurológicos graves asociados principalmente con un desenlace fatal en el período neonatal o de lactancia, aunque también se ha descrito un fenotipo más leve de inicio tardío y afectación neurológica lentamente progresiva. Las manifestaciones clínicas son variables e incluyen insuficiencia respiratoria, hipotonía, miocardiopatía y crisis. El lactato sérico está elevado en la mayoría de los casos. Las imágenes cerebrales pueden mostrar atrofia o hipoplasia cerebelosa."},"it":{"name":"Sindrome encefalomiopatia neonatale-cardiomiopatia-distress respiratorio","definition":"Si tratta di una malattia mitocondriale rara, che esordisce nel periodo neonatale con sintomi cardiaci e/o neurologici gravi, che esitano per lo più nel decesso nel periodo neonatale o nella prima infanzia, sebbene sia stato descritto anche un fenotipo meno grave ad esordio più tardivo associato a un deterioramento neurologico a progressione lenta. Il quadro clinico è variabile e comprende l'insufficienza respiratoria, l'ipotonia, la cardiomiopatia e le crisi epilettiche. Nella maggior parte di pazienti i livelli di lattato nel siero sono elevati. Le neuroimmagini mostrano atrofia o ipoplasia cerebellare."},"nl":{"name":"Neonatale encefalomyopathie - cardiomyopathie - ademhalingsnood-syndroom","synonyms":["COQ4-gerelateerde neonatale encefalomyopathie"],"definition":"Een zeldzame mitochondriale aandoening, gekarakteriseerd door neonatale aanvang van ernstige cardiale en/of neurologische verschijnselen en symptomen, meestal geassocieerd met een fatale uitkomst in de neonatale periode of zuigelingentijd, hoewel er ook een milder fenotype met latere aanvang en traag progressieve neurologische achteruitgang werd gerapporteerd. Klinische manifestaties zijn variabel en omvatten onder meer respiratoire insufficiëntie, hypotonie, cardiomyopathie, en insulten. In de meeste gevallen is het lactaatgehalte in serum verhoogd. Beeldvorming van hersenen toont mogelijk cerebellaire atrofie of hypoplasie."},"pt":{"name":"Síndrome de encefalomiopatia neonatal-cardiomiopatia-dificuldade respiratória"},"pl":{"name":"Zespół encefalopatii noworodków, kardiomiopatii i niewydolności oddechowej","synonyms":["Encefalopatia noworodków związana z COQ4"]},"cs":{"name":"Neonatální encefalomyopatie, kardiomyopatie a syndrom respirační tísně","synonyms":["COQ4-vázaná neonatální encefalomyopatie"]},"uk":{"name":"Неонатальна енцефаломіопатія-кардіоміопатія-респіраторний дистрес-синдром","synonyms":["COQ4-залежна неонатальна енцефаломіопатія"],"definition":"A rare mitochondrial disease characterized by neonatal onset of severe cardiac and/or neurologic signs and symptoms mostly associated with a fatal outcome in the neonatal period or in infancy, although a milder phenotype with later onset and slowly progressive neurologic deterioration has also been reported. Clinical manifestations are variable and include respiratory insufficiency, hypotonia, cardiomyopathy, and seizures. Serum lactate is elevated in most cases. Brain imaging may show cerebellar atrophy or hypoplasia."},"zh":{"name":"新生儿脑性肌病-心肌病-呼吸窘迫综合征","synonyms":["COQ4相关先天性脑病"],"definition":"一种罕见的线粒体疾病，其特点是新生儿期开始出现严重的心脏和（或）神经系统症状，大多会导致新生儿或婴儿致命，但也有报道过发病较晚、神经系统缓慢进行性恶化的轻度表型。临床表现不一，包括呼吸功能不全、肌张力低下、心肌病和癫痫发作。多数病例血清乳酸升高。脑影像学检查可显示小脑萎缩或发育不全。"},"tr":{"name":"Yenidoğan ensefalomiyopati-kardiyomiyopati-solunum sıkıntısı sendromu","synonyms":["COQ4-ilişkili yenidoğan ensefalomiyopati"]}},"xrefs":[{"source":"OMIM","code":"616276","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":"0014562","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5568562","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":35656,"name":"Coenzyme Q10 deficiency","classifications":[150,156,181]},{"orpha":217587,"name":"Mitochondrial disease with hypertrophic cardiomyopathy","classifications":[146,156,233]}],"children":[],"genes":[{"symbol":"COQ4","name":"coenzyme Q4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"25658047[PMID]_26185144[PMID]","hgnc":"19693","ensembl":"ENSG00000167113","omim":"612898","loci":["9q34.11"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":11.0,"area":"Worldwide","status":"Validated","source":"26185144[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26185144[PMID]"}],"phenotypes":null}