{"orpha":319678,"name":"Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome is a rare mitochondrial disease due to a defect in coenzyme Q10 biosynthesis that manifests with a broad spectrum of signs and symptoms which may include: neonatal lactic acidosis, global developmental delay, tonus disorder, seizures, reduced spontaneous movements, ventricular hypertrophy, bradycardia, renal tubular dysfunction with massive lactic acid excretion in urine, severe biochemical defect of respiratory chain complexes II/III when assayed together and deficiency of coenzyme Q10 in skeletal muscle. Cerebral and cerebellar atrophy can be seen on magnetic resonance imaging and multiple choroid plexus cysts and symmetrical hyperechoic signal alterations in basal ganglia have been observed on ultrasound.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-319678/","orphanet_url":"https://www.orpha.net/en/disease/detail/319678","names":{"fr":{"name":"Syndrome d'encéphalopathie-cardiomyopathie hypertrophique-néphropathie tubulaire","definition":"Le syndrome d'encéphalopathie-cardiomyopathie hypertrophique-néphropathie tubulaire est une maladie mitochondriale rare causée par un trouble de la biosynthèse du coenzyme Q10. Il se manifeste par un large spectre de signes et de symptômes pouvant inclure : une acidose lactique néonatale, un retard global du développement, un trouble de la tonicité, des convulsions, une réduction des mouvements spontanés, une hypertrophie ventriculaire, une bradycardie, une dysfonction tubulaire rénale avec excrétion urinaire massive d'acide lactique, un trouble biochimique sévère des complexes II/III de la chaîne respiratoire lorsqu'ils sont dosés ensemble, et un déficit du coenzyme Q10 dans le muscle squelettique. L'imagerie par résonance magnétique peut révéler une atrophie cérébrale et cérébelleuse. Des kystes multiples sont observés au niveau du plexus choroïde à l'échographie, ainsi que des altérations hyperéchogènes symétriques dans les ganglions de la base."},"de":{"name":"Enzephalopathie mit hypertropher Kardiomyopathie und renal-tubulärer Störung","definition":"Enzephalopathie mit hypertropher Kardiomyopathie und renal-tubulärer Störung ist eine seltene mitochondriale Erkrankung, die auf einem Defekt in der Coenzym Q10-Biosynthese beruht. Die Krankheit umfasst ein breites Spektrum von Anzeichen und Symptomen: Neonatale Laktatazidose, globale Entwicklungsverzögerung, Tonusstörung, Krampfanfälle, reduzierte Spontanbewegungen, ventrikuläre Hypertrophie, Bradykardie, renale tubuläre Dysfunktion mit massiver Milchsäureausscheidung im Urin, schwerer biochemischer Defekt der Atmungskettenkomplexe II/III (bei gemeinsamer Untersuchung) und Coenzym Q10-Defizienz im Skelettmuskel. In der Magnetresonanztomographie ist eine zerebrale und zerebelläre Atrophie zu sehen und im Ultraschall wurden multiple Aderhautplexuszysten und symmetrische hyperechoische Signalveränderungen in den Basalganglien beobachtet."},"es":{"name":"Síndrome de encefalopatía-miocardiopatía hipertrófica-enfermedad tubular renal","definition":"El síndrome de encefalopatía-miocardiopatía hipertrófica-enfermedad renal tubular es una enfermedad mitocondrial poco frecuente, debido a un defecto en la biosíntesis de coenzima Q10, que se manifiesta con un amplio espectro de signos y síntomas que pueden incluir: acidosis láctica neonatal, retraso generalizado del desarrollo, trastorno del tono, convulsiones, disminución de los movimientos espontáneos, hipertrofia ventricular, bradicardia, disfunción renal tubular con excreción masiva de ácido láctico en la orina, defecto bioquímico severo de los complejos II/III de la cadena respiratoria cuando se analizan juntos y deficiencia de coenzima Q10 en músculo esquelético. En imágenes de resonancia magnética es posible evidenciar atrofia cerebral y cerebelosa y en ecografías se han observado quistes múltiples del plexo coroideo y señales hiperecoicas simétricas en los ganglios basales."},"it":{"name":"Encefalopatia - cardiomiopatia ipertrofica - malattia tubulare renale","definition":"L'encefalopatia associata a cardiomiopatia ipertrofica e alla malattia tubulare renale è una malattia rara dei mitocondri causata da un difetto della biosintesi del coenzima Q10. Il quadro clinico è ampio e comprende acidosi lattica neonatale, ritardo dello sviluppo globale, anomalie del tono muscolare, crisi epilettiche, riduzione dei movimenti spontanei, ipertrofia ventricolare, bradicardia, disfunzione tubulare renale con livelli elevati di acido lattico nelle urine, grave difetto biochimico dell'attività dei complessi della catena respiratoria II/III quando testati insieme e deficit di coenzima Q10 nei muscoli scheletrici. La risonanza magnetica evidenzia atrofia del cervello e del cervelletto, mentre l'ecografia evidenzia la presenza di cisti multiple nei plessi coroidei e segnali iperecogeni simmetrici alterati nei gangli basali."},"nl":{"name":"Encefalopathie - hypertrofische cardiomyopathie - tubulaire nierziekte-syndroom","definition":"Encefalopathie - hypertrofische cardiomyopathie - renale tubulaire ziekte-syndroom is een zeldzame mitochondriale ziekte als gevolg van een defect in de biosynthese van co-enzym Q10 die zich manifesteert met een breed spectrum van tekenen en symptomen, waaronder neonatale lactaatacidose, algemene ontwikkelingsachterstand, tonusstoornis, insulten, gereduceerde spontane bewegingen, ventriculaire hypertrofie, bradycardie, renale tubulaire disfunctie met massale excretie van lactaat in de urine, ernstig biochemisch defect van complexen II/III van de ademhalingsketen wanneer ze samen getest worden, en deficiëntie van co-enzym Q10 in skeletspieren. Cerebrale en cerebellaire atrofie kunnen waargenomen worden bij beeldvorming met magnetische resonantie, en meervoudige cysten op de plexus choroideus en symmetrische wijzigingen van hyperechogene signalen in de basale ganglia werden geobserveerd bij echografie."},"pt":{"name":"Síndrome de encefalopatia-miocardiopatia hipertrófica-doença tubular renal"},"pl":{"name":"Encefalopatia - kardiomiopatia przerostowa - choroba kanalików nerkowych"},"cs":{"name":"Syndrom zahrnující encefalopatii, hypertrofickou kardiomyopatii a renální tubulární nemoc"},"uk":{"name":"Синдром енцефалопатії-гіпертрофічної кардіоміопатії-ниркової недостатності","definition":"Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome is a rare mitochondrial disease due to a defect in coenzyme Q10 biosynthesis that manifests with a broad spectrum of signs and symptoms which may include: neonatal lactic acidosis, global developmental delay, tonus disorder, seizures, reduced spontaneous movements, ventricular hypertrophy, bradycardia, renal tubular dysfunction with massive lactic acid excretion in urine, severe biochemical defect of respiratory chain complexes II/III when assayed together and deficiency of coenzyme Q10 in skeletal muscle. Cerebral and cerebellar atrophy can be seen on magnetic resonance imaging and multiple choroid plexus cysts and symmetrical hyperechoic signal alterations in basal ganglia have been observed on ultrasound."},"zh":{"name":"脑病-肥厚型心肌病-肾小管疾病综合征","definition":"脑病-肥厚型心肌病-肾小管疾病综合征是一种罕见的线粒体疾病，由于辅酶Q10生物合成的缺陷，表现出多种体征和症状，包括:新生儿乳酸酸中毒、全面发育迟缓、肌肉紧张障碍、癫痫发作、自发运动减少、心室肥大、心动过缓、肾小管功能障碍伴大量乳酸排泄、呼吸链复合体II/III的严重生化缺陷(当一起检测时)和骨骼肌中辅酶Q10的缺乏。核磁共振成像可见脑萎缩和小脑萎缩，超声可观察到多发性脉络丛囊肿和基底神经节对称高回声信号改变。"},"tr":{"name":"Ensefalopati-hipertrofik kardiyomiyopati-renal tübüler hastalık sendromu"}},"xrefs":[{"source":"OMIM","code":"614654","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616733","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E88.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C53.22","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0013840","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4706367","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"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":"COQ7","name":"coenzyme Q7, hydroxylase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"31240163[PMID]_28409910[PMID]_26084283[PMID]","hgnc":"2244","ensembl":"ENSG00000167186","omim":"601683","loci":["16p12.3"]},{"symbol":"COQ9","name":"coenzyme Q9","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19375058[PMID]","hgnc":"25302","ensembl":"ENSG00000088682","omim":"612837","loci":["16q21"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"11562630[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_11562630[PMID]"}],"phenotypes":null}