{"orpha":324525,"name":"Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Hypertrophic cardiomyopathy with kidney anomalies due to mtDNA mutation","Hypertrophic cardiomyopathy with renal anomalies due to mitochondrial DNA mutation"],"definition":"A mitochondrial oxidative phosphorylation disorder characterized by hypertrophic and dilated cardiomyopathy, failure to thrive, myopathy with generalized hypotonia and increased creatine kinase, developmental delay and/or regression with cerebral atrophy on brain MRI, renal manifestations including chronic renal failure, renal tubular acidosis and lactic acidosis. Additional clinical features include seizures and respiratory failure.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-324525/","orphanet_url":"https://www.orpha.net/en/disease/detail/324525","names":{"fr":{"name":"Cardiomyopathie hypertrophique avec anomalies rénales dues à une mutation de l'ADN mitochondrial","synonyms":["Cardiomyopathie hypertrophique avec anomalies rénales dues à une mutation de l'ADNmt"],"definition":"Anomalie de la phosphorylation oxydative mitochondriale caractérisée par une cardiomyopathie hypertrophique et dilatée, un retard de croissance staturo-pondérale, une myopathie avec hypotonie généralisée et augmentation des taux de créatine kinase, un retard et/ou une régression du développement avec atrophie cérébrale mise en évidence à l'IRM, des manifestations rénales comprenant une insuffisance rénale chronique, une acidose tubulaire rénale et une acidose lactique. Les autres caractéristiques cliniques incluent des crises convulsives et une insuffisance respiratoire."},"de":{"name":"Hypertrophe Kardiomyopathie mit Nierenanomalien durch mitochondriale DNA-Mutation","synonyms":["Hypertrophe Kardiomyopathie mit renalen Anomalien durch mtDNA-Mutation"]},"es":{"name":"Miocardiopatía hipertrófica con anomalías renales por mutación del ADN mitocondrial","synonyms":["Miocardiopatía hipertrófica con anomalías renales por mutación del ADNmt"],"definition":"Es un trastorno de la fosforilación oxidativa mitocondrial caracterizado por miocardiopatía hipertrófica o dilatada, fallo de medro, miopatía con hipotonía generalizada y aumento de creatinquinasa, retraso del desarrollo y/o regresión con atrofia cerebral en la resonancia magnética, así como manifestaciones renales que incluyen insuficiencia renal crónica, acidosis renal tubular y acidosis láctica. Otras características clínicas incluyen crisis e insuficiencia respiratoria."},"it":{"name":"Cardiomiopatia ipertrofica con anomalie renali da mutazione del DNA mitocondriale","synonyms":["Cardiomiopatia ipertrofica con anomalie dei reni da mutazione del DNA mitocondriale","Cardiomiopatia ipertrofica con anomalie renali da mutazione del mtDNA"],"definition":"La cardiomiopatia ipertrofica associata a malattia tubulare renale da mutazione del DNA mitocondriale è una malattia rara della fosforilazione ossidativa mitocondriale, caratterizzata da cardiomiopatia ipertrofica e dilatativa, ritardo della crescita, miopatia con ipotonia generalizzata ed aumento dei livelli di creatin-chinasi, ritardo e/o regressione dello sviluppo, atrofia cerebrale alla RMN del cervello e segni clinici renali, che comprendono l'insufficienza cronica, l'acidosi tubulare renale e l'acidosi lattica. I pazienti possono presentare anche crisi epilettiche ed insufficienza respiratoria."},"nl":{"name":"Hypertrofische cardiomyopathie met nieranomalieën door mutatie van mitochondriaal DNA","synonyms":["Hypertrofische cardiomyopathie met nieranomalieën door mtDNA-mutatie","Hypertrofische cardiomyopathie met renale anomalieën door mutatie van mitochondriaal DNA"],"definition":"Een mitochondriale oxidatieve fosforylatiestoornis, gekarakteriseerd door hypertrofische en gedilateerde cardiomyopathie, groeifalen, myopathie met gegeneraliseerde hypotonie en verhoogd creatinekinase, ontwikkelingsachterstand en/of regressie met cerebrale atrofie op MRI van hersenen, en renale manifestaties waaronder chronisch nierfalen, renale tubulaire acidose en lactaatacidose. Bijkomende klinische kenmerken zijn onder meer insulten en respiratoire insufficiëntie."},"pt":{"name":"Miocardiopatia hipertrófica com anomalias renais devido a mutação de ADN mitocondrial","synonyms":["Miocardiopatia hipertrófica com anomalias renais devido a mutação no ADNmt"]},"pl":{"name":"Kardiomiopatia przerostowa i choroba kanalików nerkowych spowodowana mutacjami mitochondrialnego DNA","synonyms":["Kardiomiopatia przerostowa i choroba kanalików nerkowych z powodu mutacji mtDNA","Kardiomiopatia przerostowa z wadami nerek wskutek mutacji w mitochondrialnym DNA"],"definition":"*Kardiomiopatia przerostowa i choroba kanalików nerkowych spowodowana mutacjami mitochondrialnego DNA jest mitochondrialnym zaburzeniem fosforylacji oksydacyjnej, które charakteryzuje się kardiomiopatią przerostową i rozstrzeniową, zahamowaniem rozwoju, miopatią z uogólnioną hipotonią i zwiększonym stężeniem kinazy kreatyninowej, opóźnieniem i/lub regresją rozwoju z zanikami mózgu w badaniu MRI, niewydolnością nerek, kwasicą kanalikową i kwasicą mleczanową. Dodatkowe objawy kliniczne obejmują drgawki i niewydolność oddechową."},"cs":{"name":"Hypertrofická kardiomyopatie a renální tubulární nemoc způsobená mutací mitochondriální DNA","synonyms":["Hypertrofická kardiomyopatie a renální tubulární nemoc způsobená mutací mtDNA"]},"uk":{"name":"Гіпертрофічна кардіоміопатія з аномаліями нирок, зумовлена мутацією мітохондріальної ДНК","synonyms":["Гіпертрофічна кардіоміопатія з аномаліями нирок внаслідок мутації мтДНК","Гіпертрофічна кардіоміопатія з нирковими аномаліями внаслідок мутації мітохондріальної ДНК"],"definition":"A mitochondrial oxidative phosphorylation disorder characterized by hypertrophic and dilated cardiomyopathy, failure to thrive, myopathy with generalized hypotonia and increased creatine kinase, developmental delay and/or regression with cerebral atrophy on brain MRI, renal manifestations including chronic renal failure, renal tubular acidosis and lactic acidosis. Additional clinical features include seizures and respiratory failure."},"zh":{"name":"线粒体DNA突变所致肥厚型心肌病和肾小管性疾病","synonyms":["mtDNA突变所致肥厚型心肌病和肾小管性疾病"],"definition":"一种线粒体氧化磷酸化障碍，其特征为肥厚型和扩张型心肌病、生长发育迟滞、肌病伴全身张力低下和肌酸激酶升高、发育延迟和/或MRI上脑萎缩消退、肾脏表现(包括慢性肾衰竭、肾小管性酸中毒和乳酸性酸中毒)。其他临床特征包括癫痫发作和呼吸衰竭。"},"tr":{"name":"Mitokondriyal DNA mutasyonuna bağlı hipertrofik kardiyomiyopati ve renal tübüler hastalık","synonyms":["MtDNA mutasyonuna bağlı hipertrofik kardiyomiyopati ve renal tübüler hastalık"]}},"xrefs":[{"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":"0017933","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4749942","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":183592,"name":"Genetic renal tubular disease","classifications":[156]},{"orpha":217587,"name":"Mitochondrial disease with hypertrophic cardiomyopathy","classifications":[146,156,233]},{"orpha":254776,"name":"Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA","classifications":[150,156]},{"orpha":93593,"name":"Nephropathy secondary to a storage or other metabolic disease","classifications":[156,188]},{"orpha":93603,"name":"Rare renal tubular disease","classifications":[188]}],"children":[],"genes":[{"symbol":"MT-TL1","name":"mitochondrially encoded tRNA-Leu (UUA/G) 1","gene_type":"Non-coding RNA","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22781753[PMID]","hgnc":"7490","ensembl":"ENSG00000209082","omim":"590050","loci":["mitochondria"]}],"genes_via_subtypes":[],"inheritance":["No data available"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"22781753[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2023-02-08","source":"22781753[PMID]","terms":[{"hpo":"HP:0001638","label":"Cardiomyopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002059","label":"Cerebral atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012622","label":"Chronic kidney disease","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011923","label":"Decreased activity of mitochondrial complex I","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003236","label":"Elevated circulating creatine kinase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008947","label":"Floppy infant","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002151","label":"Increased circulating lactate concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003535","label":"3-Methylglutaconic aciduria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011924","label":"Decreased activity of mitochondrial complex III","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003348","label":"Hyperalaninemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002521","label":"Hypsarrhythmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002490","label":"Increased CSF lactate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001947","label":"Renal tubular acidosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Occasional (29-5%)","criteria":null}]}}