{"orpha":254913,"name":"Isolated ATP synthase deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Isolated mitochondrial respiratory chain complex V deficiency"],"definition":"Isolated ATP synthase deficiency is a rare, genetic, mitochondrial oxidative phosphorylation disorder that may present with a wide range of symptoms (including muscular hypotonia, hypertrophic cardiomyopathy, psychomotor delay, encephalopathy, peripheral neuropathy, lactic acidosis, 3-methylglutaconic aciduria) and clinical syndromes (including NARP and MILS).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-254913/","orphanet_url":"https://www.orpha.net/en/disease/detail/254913","names":{"fr":{"name":"Déficit isolé en ATP synthase","synonyms":["Déficit isolé en complexe V de la chaîne respiratoire mitochondriale"],"definition":"Anomalie génétique rare de la phosphorylation oxydative mitochondriale qui peut se manifester par un large éventail de symptômes (notamment hypotonie musculaire, cardiomyopathie hypertrophique, retard psychomoteur, encéphalopathie, neuropathie périphérique, acidose lactique, acidurie 3-méthylglutaconique) et peut accompagner des syndromes (notamment NARP et MILS)."},"de":{"name":"ATP-Synthase-Mangel, isolierter","synonyms":["Isolierter mitochondrialer Atmungskettendefekt im Komplex V"]},"es":{"name":"Deficiencia aislada de ATP sintasa","synonyms":["Deficiencia aislada del complejo 5 de la cadena respiratoria mitocondrial","Deficiencia aislada del complejo V de la cadena respiratoria mitocondrial"],"definition":"La deficiencia aislada de ATP sintasa, es un trastorno de la fosforilación oxidativa mitocondrial, genético y poco frecuente, que puede presentar una gran variedad de síntomas (que incluyen hipotonía muscular, cardiomiopatía hipertrófica, retraso psicomotor, encefalopatía, neuropatía periférica, acidosis láctica, aciduria 3-metilglutacónica) y síndromes clínicos definidos (que incluyen NARP y MILS)."},"it":{"name":"Deficit isolato di ATP sintasi","synonyms":["Deficit isolato del complesso V della catena respiratoria mitocondriale"],"definition":"Il deficit isolato di ATP sintasi è una malattia rara della fosforilazione ossidativa mitocondriale, di origine genetica, che esordisce con un'ampia gamma di segni clinici (che comprendono l'ipotonia muscolare, la cardiomiopatia ipertrofica, il ritardo psicomotorio, l'encefalopatia, la neuropatia periferica, l'acidosi lattica e l'aciduria 3-metilglutaconica) e alcune sindromi cliniche (tra cui la sindrome NARP e MILS)."},"nl":{"name":"Geïsoleerde ATP-synthasedeficiëntie","synonyms":["Geïsoleerde mitochondriale ademhalingsketencomplex V-deficiëntie"],"definition":"Geïsoleerde ATP-synthasedeficiëntie is een zeldzame, genetische mitochondriale oxidatieve fosforylatiestoornis die zich kan voordoen met een brede waaier van symptomen (waaronder musculaire hypotonie, hypertrofische cardiomyopathie, psychomotorische achterstand, encefalopathie, perifere neuropathie, lactaatacidose, 3-methylglutaconacidurie) en klinische syndromen (waaronder NARP en MILS)."},"pt":{"name":"Deficiência isolada da ATP sintetase","synonyms":["Deficiência isolada do complexo V da cadeia respiratória mitocondrial"]},"pl":{"name":"Izolowany niedobór syntazy ATP","synonyms":["Izolowany Niedobór kompleksu V mitochondrialnego łańcucha oddechowego"],"definition":"*Izolowany niedobór syntazy ATP jest rzadkim, genetycznie uwarunkowanym, mitochondrialnym zaburzeniem fosforylacji oksydacyjnej, które może objawiać się szerokim zakresem objawów (w tym obniżeniem napięcia mięśniowego, kardiomiopatią przerostową, opóźnieniem rozwoju psychoruchowego, encefalopatią, neuropatią obwodową, kwasicą mleczanową, kwasicą 3-metyloglutakonową), a także może towarzyszyć zespołom klinicznym (w tym NARP czy MILS)."},"cs":{"name":"Izolovaný deficit ATP syntázy","synonyms":["Izolovaný deficit komplexu V mitochondriálního dýchacího řetězce"]},"uk":{"name":"Ізольований дефіцит АТФ-синтази","synonyms":["Ізольований дефіцит V комплексу мітохондріального дихального ланцюга"],"definition":"Isolated ATP synthase deficiency is a rare, genetic, mitochondrial oxidative phosphorylation disorder that may present with a wide range of symptoms (including muscular hypotonia, hypertrophic cardiomyopathy, psychomotor delay, encephalopathy, peripheral neuropathy, lactic acidosis, 3-methylglutaconic aciduria) and clinical syndromes (including NARP and MILS)."},"zh":{"name":"孤立性ATP合酶缺乏症","synonyms":["孤立性线粒体呼吸链复合物V缺乏症"],"definition":"孤立性ATP合成酶缺乏症是一种罕见的遗传性线粒体氧化磷酸化紊乱，可表现为多种症状(包括肌张力低下、肥厚性心肌病、精神运动延迟、脑病、周围神经病变、乳酸中毒、3-甲基谷氨酸酸尿)和临床症状(包括NARP和MILS)。"},"tr":{"name":"İzole ATP sentaz eksikliği","synonyms":["İzole mitokondriyal solunum zinciri kompleks V eksikliği"]}},"xrefs":[{"source":"OMIM","code":"604273","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614053","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615228","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618120","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618683","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"620358","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"620359","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E88.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C53.25","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"902255625"},{"source":"MONDO","code":"0014471","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"14471","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4757950","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":254846,"name":"Isolated oxidative phosphorylation complex disorder","classifications":[150,156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]}],"children":[],"genes":[{"symbol":"ATP5F1A","name":"ATP synthase F1 subunit alpha","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23599390[PMID]","hgnc":"823","ensembl":"ENSG00000152234","omim":"164360","loci":["18q21.1"]},{"symbol":"ATP5F1D","name":"ATP synthase F1 subunit delta","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29478781[PMID]","hgnc":"837","ensembl":"ENSG00000099624","omim":"603150","loci":["19p13.3"]},{"symbol":"ATP5F1E","name":"ATP synthase F1 subunit epsilon","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20566710[PMID]","hgnc":"838","ensembl":"ENSG00000124172","omim":"606153","loci":["20q13.32"]},{"symbol":"ATP5MK","name":"ATP synthase membrane subunit k","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29917077[PMID]","hgnc":"30889","ensembl":"ENSG00000173915","omim":"615204","loci":["10q24.33"]},{"symbol":"ATP5PO","name":"ATP synthase peripheral stalk subunit OSCP","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"34954817[PMID]_35621276[PMID]","hgnc":"850","ensembl":"ENSG00000241837","omim":"600828","loci":["21q22.11"]},{"symbol":"ATPAF2","name":"ATP synthase mitochondrial F1 complex assembly factor 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"14757859[PMID]","hgnc":"18802","ensembl":"ENSG00000171953","omim":"608918","loci":["17p11.2"]},{"symbol":"MT-ATP6","name":"mitochondrially encoded ATP synthase membrane subunit 6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21686774[PMID]_28412374[PMID]","hgnc":"7414","ensembl":"ENSG00000198899","omim":"516060","loci":["mitochondria"]},{"symbol":"MT-ATP8","name":"mitochondrially encoded ATP synthase membrane subunit 8","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21686774[PMID]","hgnc":"7415","ensembl":"ENSG00000228253","omim":"516070","loci":["mitochondria"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2023-01-20","source":"35330152[PMID]","terms":[{"hpo":"HP:0003535","label":"3-Methylglutaconic aciduria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011675","label":"Arrhythmia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001644","label":"Dilated cardiomyopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001298","label":"Encephalopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003348","label":"Hyperalaninemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001987","label":"Hyperammonemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001639","label":"Hypertrophic cardiomyopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003128","label":"Lactic acidosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012758","label":"Neurodevelopmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002098","label":"Respiratory distress","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000618","label":"Blindness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001272","label":"Cerebellar atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003546","label":"Exercise intolerance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000135","label":"Hypogonadism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000821","label":"Hypothyroidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001254","label":"Lethargy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0032794","label":"Myoclonic seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000089","label":"Renal hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000510","label":"Rod-cone dystrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001258","label":"Spastic paraplegia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002445","label":"Tetraplegia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000602","label":"Ophthalmoplegia","frequency":"Very rare (<4-1%)","criteria":null}]}}