{"orpha":352563,"name":"Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["COXPD16","Combined oxidative phosphorylation defect type 16"],"definition":"A rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by hypertrophic cardiomyopathy, hepatic steatosis with elevated liver transaminases, exercise intolerance and muscle weakness. Neuro-opthalmological features (hemiplegic migraine, Leigh-like lesions on brain MRI, pigmentary retinopathy) have been reported later in life.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-352563/","orphanet_url":"https://www.orpha.net/en/disease/detail/352563","names":{"fr":{"name":"Cardiomyopathie hypertrophique infantile par déficit en MRPL44","synonyms":["COXPD16","Déficit combiné de la phosphorylation oxydative type 16"],"definition":"Anomalie de la phosphorylation oxydative mitochondriale avec déficit des complexes I et IV caractérisée par une cardiomyopathie hypertrophique, une stéatose hépatique avec élévation des transaminases hépatiques, une intolérance à l'effort et une faiblesse musculaire. Plus tard dans la vie, peuvent apparaître des symptômes neurologiques et oculaires (migraine hémiplégique, lésions à type de syndrome de Leigh visibles à l'IRM cérébrale, rétinopathie pigmentaire)."},"de":{"name":"Infantile hypertrophe Kardiomyopathie durch MRPL44-Mangel","synonyms":["COXPD16","Kombinierter Defekt der oxidativen Phosphorylierung Typ 16"]},"es":{"name":"Miocardiopatía hipertrófica infantil por deficiencia de MRPL44","synonyms":["COXPD16","Deficiencia combinada de la fosforilación oxidativa tipo 16"],"definition":"Es un trastorno de la fosforilación oxidativa mitocondrial poco frecuente por deficiencia de los complejos I y IV. Está caracterizada por miocardiopatía hipertrófica, esteatosis hepática con transaminasas hepáticas elevadas, intolerancia al ejercicio y debilidad muscular. También se han descrito, en edades más tardías, rasgos de afectación neuro-oftalmológica (migraña hemipléjica, lesiones similares al síndrome de Leigh en imágenes de resonancia magnética cerebral y retinopatía pigmentaria)."},"it":{"name":"Cardiomiopatia ipertrofica infantile da deficit di MRPL44","synonyms":["COXPD16","Difetto combinato della fosforilazione ossidativa, tipo 16"],"definition":"La cardiomiopatia ipertrofica infantile da deficit di MRPL44 è una malattia rara della fosforilazione ossidativa mitocondriale con deficit del complesso I e IV, caratterizzata da cardiomiopatia ipertrofica, steatosi epatica con livelli elevati di transaminasi epatiche, intolleranza all'esercizio fisico e debolezza muscolare. Successivamente i pazienti sviluppano sintomi neuro-oftalmici (emicrania emiplegica, lesioni simil-Leigh evidenti alla RMN cerebrale e retinopatia pigmentata)."},"nl":{"name":"Infantiele hypertrofische cardiomyopathie door MRPL44-deficiëntie","synonyms":["COXPD16","Gecombineerde oxidatieve fosforylatiedeficiëntie type 16"],"definition":"Een zeldzame mitochondriale oxidatieve fosforylatiestoornis met deficiëntie van complex I en IV, gekarakteriseerd door hypertrofische cardiomyopathie, leversteatose met verhoogde levertransaminasen, inspanningsintolerantie en spierzwakte. Neuro-oftalmologische kenmerken (hemiplegische migraine, Leigh-achtige letsels op MRI van hersenen, pigmentretinopathie) werden op latere leeftijd gerapporteerd."},"pt":{"name":"Cardiomiopatia hipertrófica da infância por défice de MRPL44"},"pl":{"name":"Dziecięca kardiomiopatia przerostowa z powodu niedoboru MRpl44","synonyms":["COXPD16","Złożony defekt fosforylacji oksydacyjnej typu 16"],"definition":"*Dziecięca kardiomiopatia przerostowa z powodu niedoboru MRPL44 jest rzadkim schorzeniem mitochondrialnym, w którym dochodzi do zaburzeń fosforylacji oksydacyjnej z niedoborem kompleksów I i IV; charakteryzuje się kardiomiopatią przerostową, stłuszczeniem wątroby z podwyższonymi stężeniami transaminaz wątrobowych, nietolerancją wysiłku i osłabieniem mięśni. W późniejszym okresie życia mogą wystąpić objawy neurologiczne i ze strony narządu wzroku (migrena hemiplegiczna, zmiany w MRI mózgu podobne jak w chorobie Leigha, retinopatia barwnikowa)."},"cs":{"name":"Hypertrofická kardiomyopatie kojenců způsobená deficitem MRPL44 s nástupem v kojeneckém věku","synonyms":["COXPD16","Kombinovaná porucha oxidativní fosforylace typ 16"]},"uk":{"name":"Інфантильна гіпертрофічна кардіоміопатія, зумовлена дефіцитом MRPL44","synonyms":["Комбінований дефект окисного фосфорилювання типу 16","COXPD16"],"definition":"A rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by hypertrophic cardiomyopathy, hepatic steatosis with elevated liver transaminases, exercise intolerance and muscle weakness. Neuro-opthalmological features (hemiplegic migraine, Leigh-like lesions on brain MRI, pigmentary retinopathy) have been reported later in life."},"zh":{"name":"MRPL44基因缺陷导致婴儿肥厚型心肌病","synonyms":["联合氧化磷酸化缺陷症16型"],"definition":"一种罕见的线粒体氧化磷酸化障碍，伴复合物I和IV缺陷，特征是肥厚性心肌病、肝脏脂肪变性和肝转氨酶升高、运动不耐受和肌肉无力。晚年也有报道视神经学特征（偏身性偏头痛、脑MRI示Leigh样病变、色素性视网膜病变）。"},"tr":{"name":"MRPL44 eksikliğine bağlı infantil hipertrofik kardiyomiyopati","synonyms":["COXPD16","Kombine oksidatif fosforilasyon defekti tip 16"]}},"xrefs":[{"source":"OMIM","code":"615395","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":"0014162","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4749946","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12892","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97929,"name":"Rare cardiac disease"},"parents":[{"orpha":217587,"name":"Mitochondrial disease with hypertrophic cardiomyopathy","classifications":[146,156,233]},{"orpha":35696,"name":"Mitochondrial disorder due to a defect in mitochondrial protein synthesis","classifications":[150,156]}],"children":[],"genes":[{"symbol":"MRPL44","name":"mitochondrial ribosomal protein L44","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23315540[PMID]","hgnc":"16650","ensembl":"ENSG00000135900","omim":"611849","loci":["2q36.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"23315540[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}