{"orpha":1460,"name":"Isolated complex III deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Isolated CoQ-cytochrome C reductase deficiency","Isolated coenzyme Q-cytochrome C reductase deficiency","Isolated mitochondrial respiratory chain complex III deficiency","Isolated ubiquinone-cytochrome C reductase deficiency"],"definition":"Isolated complex III deficiency is a rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by a wide spectrum of clinical manifestations ranging from isolated myopathy or transient hepatopathy to severe multisystem disorder (that may include hypotonia, failure to thrive, psychomotor delay, cardiomyopathy, encephalopathy, renal tubulopathy, hearing impairment, lactic acidosis, hypoglycemia and other signs and symptoms).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1460/","orphanet_url":"https://www.orpha.net/en/disease/detail/1460","names":{"fr":{"name":"Déficit isolé en complex III","synonyms":["Déficit isolé en CoQ-cytochrome C oxydoréductase","Déficit isolé en coenzyme Q-cytochrome C oxydoréductase","Déficit isolé en complexe III de la chaîne respiratoire mitochondriale","Déficit isolé en ubiquinone-cytochrome C oxydoréductase"],"definition":"Anomalie génétique rare de la phosphorylation oxydative mitochondriale caractérisée par un large éventail de manifestations cliniques allant d'une myopathie isolée ou d'une hépatopathie transitoire à un trouble multisystémique grave (pouvant inclure hypotonie, retard de croissance, retard psychomoteur, cardiomyopathie, encéphalopathie, tubulopathie rénale, déficience auditive, acidose lactique, hypoglycémie et d'autres signes et symptômes)."},"de":{"name":"Isolierter mitochondrialer Atmungskettendefekt im Komplex III","synonyms":["CoQ-Cytochrom C-Reduktase-Mangel, isolierter","Coenzym Q-Cytochrom C-Reduktase-Mangel, isolierter","Coenzym-Q-Cytochrom-C-Reduktase-Mangel, isolierter","Ubiquinon-Cytochrom-C-Reduktase-Mangel, isolierter"],"definition":"Der isolierte Komplex-III-Mangel ist eine seltene, genetisch bedingte mitochondriale Störung der oxidativen Phosphorylierung, die durch ein breites Spektrum klinischer Symptome gekennzeichnet ist. Die Manifestationen reichen von einer isolierten Myopathie oder transienten Hepatopathie bis hin zu schweren Multisystemerkrankungen (einschließlich Hypotonie, Gedeihstörung, psychomotorische Retardierung, Kardiomyopathie, Enzephalopathie, Nierentubulopathie, Hörstörungen, Laktatazidose, Hypoglykämie und anderen Anzeichen und Symptomen)."},"es":{"name":"Deficiencia aislada del complejo III","synonyms":["Deficiencia aislada de CoQ-citocromo C reductasa","Deficiencia aislada de coenzima Q-citocromo C reductasa","Deficiencia aislada de ubiquinona-citocromo C reductasa","Deficiencia aislada del complejo III de la cadena respiratoria mitocondrial"],"definition":"La deficiencia aislada del complejo III, es un trastorno de la fosforilación oxidativa mitocondrial, genético y poco frecuente, caracterizado por un amplio espectro de manifestaciones clínicas que van desde miopatía aislada o hepatopatía transitoria, hasta un trastorno multisistémico grave (que puede incluir hipotonía, fallo de medro, retraso psicomotor, miocardiopatía, encefalopatía, tubulopatía renal, deficiencia auditiva, acidosis láctica, hipoglucemia y otros signos y síntomas)."},"it":{"name":"Deficit isolato del complesso III","definition":"Il deficit isolato del complesso III è una malattia genetica rara della fosforilazione ossidativa mitocondriale, caratterizzata da un'ampia gamma di segni clinici, che vanno dalla miopatia isolata o dall'epatopatia transitoria, fino alla malattia multisistemica grave (che può comprendere l'ipotonia, il ritardo della crescita, il ritardo psicomotorio, la cardiomiopatia, l'encefalopatia, la tubulopatia renale, la compromissione dell'udito, l'acidosi lattica, l'ipoglicemia ed altri segni clinici)."},"nl":{"name":"Geïsoleerde complex III-deficiëntie","synonyms":["Geïsoleerde CoQ-cytochroom C-reductasedeficiëntie","Geïsoleerde co-enzym Q-cytochroom C-reductasedeficiëntie","Geïsoleerde mitochondriale ademhalingsketencomplex III-deficiëntie","Geïsoleerde ubiquinon-cytochroom C-reductasedeficiëntie"],"definition":"Geïsoleerde complex III-deficiëntie is een zeldzame, genetische, mitochondriale oxidatieve fosforylatie stoornis die gekarakteriseerd wordt door een breed spectrum van klinische manifestaties gaande van geïsoleerde myopathie of transiënte hepatopathie tot ernstige multisystemische stoornis (met mogelijk hypotonie, groeiachterstand, psychomotorische achterstand, cardiomyopathie, encefalopathie, niertubulopathie, slechthorendheid, lactaatacidose, hypoglycemie en andere tekenen en symptomen)."},"pt":{"name":"Deficiência de complexo III isolada","synonyms":["Deficiência de CoQ-citocromo C redutase isolada","Deficiência de coenzima Q-citocromo C redutase isolada","Deficiência de complexo III da cadeia respiratória mitocondrial isolada","Deficiência de ubiquinona-citocromo C redutase isolada"]},"pl":{"name":"Izolowany niedobór reduktazy CoQ-cytochromu C","synonyms":["Izolowany Niedobór kompleksu III mitochondrialnego łańcucha oddechowego","Izolowany Niedobór reduktazy koenzymu Q-cytochromu C","Izolowany Niedobór reduktazy ubichinionu-cytochromu C"],"definition":"*Izolowany niedobór kompleksu III jest rzadkim, genetycznie uwarunkowanym zaburzeniem fosforylacji oksydacyjnej, które charakteryzuje się szerokim spektrum objawów klinicznych, od izolowanej miopatii lub przemijającej hepatopatii do ciężkich zaburzeń wieloukładowych (mogących obejmować obniżenie napięcia mięśniowego, zahamowanie rozwoju, opóźnienie psychoruchowe, kardiomiopatię, encefalopatię, tubulopatię nerkową, upośledzenie słuchu, kwasicę mleczanowa, hipoglikemię oraz inne objawy przedmiotowe i podmiotowe)."},"cs":{"name":"Izolovaný deficit CoQ-cytochrom C reduktázy","synonyms":["Izolovaný deficit koenzym Q-cytochrom C reduktázy","Izolovaný deficit ubichinon-cytochrom C reduktázy","Izolovaný deficit komplexu III mitochondriálního respiračního řetězce"]},"uk":{"name":"Ізольований дефіцит комплексу III","synonyms":["Ізольований дефіцит коензиму Q-цитохрому С-редуктази","Ізольований дефіцит КоQ-цитохрому С-редуктази","Ізольований дефіцит комплексу III мітохондріального дихального ланцюга","Ізольований дефіцит убіхінон-цитохром С-редуктази"],"definition":"Isolated complex III deficiency is a rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by a wide spectrum of clinical manifestations ranging from isolated myopathy or transient hepatopathy to severe multisystem disorder (that may include hypotonia, failure to thrive, psychomotor delay, cardiomyopathy, encephalopathy, renal tubulopathy, hearing impairment, lactic acidosis, hypoglycemia and other signs and symptoms)."},"zh":{"name":"孤立型III型复合物缺乏症","synonyms":["孤立型线粒体呼吸链复合物3缺乏症"]},"tr":{"name":"İzole kompleks III eksikliği","synonyms":["İzole CoQ-sitokrom C redüktaz eksikliği","İzole koenzim Q-sitokrom C redüktaz eksikliği","İzole ubikinon-sitokrom C redüktaz eksikliği","İzole mitokondriyal solunum zinciri kompleksi III eksikliği"]}},"xrefs":[{"source":"OMIM","code":"124000","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615157","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615158","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615159","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615160","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615453","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615824","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615838","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616111","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618775","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"620137","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C53.2Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"393305910"},{"source":"MONDO","code":"0015448","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C565128","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1852372","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8295","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]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"BCS1L","name":"BCS1 ubiquinol-cytochrome c reductase complex chaperone","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"17403714[PMID]_19162478[PMID]_25914718[PMID]","hgnc":"1020","ensembl":"ENSG00000074582","omim":"603647","loci":["2q35"]},{"symbol":"CYC1","name":"cytochrome c1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23910460[PMID]_25914718[PMID]","hgnc":"2579","ensembl":"ENSG00000179091","omim":"123980","loci":["8q24.3"]},{"symbol":"LYRM7","name":"LYR motif containing 7","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24014394[PMID]_25914718[PMID]","hgnc":"28072","ensembl":"ENSG00000186687","omim":"615831","loci":["5q23.3-q31.1"]},{"symbol":"MT-CYB","name":"mitochondrially encoded cytochrome b","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20862300[PMID]_25914718[PMID]","hgnc":"7427","ensembl":"ENSG00000198727","omim":"516020","loci":["mitochondria"]},{"symbol":"TTC19","name":"tetratricopeptide repeat domain 19","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21278747[PMID]_25914718[PMID]","hgnc":"26006","ensembl":"ENSG00000011295","omim":"613814","loci":["17p12"]},{"symbol":"UQCC2","name":"ubiquinol-cytochrome c reductase complex assembly factor 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24385928[PMID]_25914718[PMID]","hgnc":"21237","ensembl":"ENSG00000137288","omim":"614461","loci":["6p21.31"]},{"symbol":"UQCC3","name":"ubiquinol-cytochrome c reductase complex assembly factor 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25008109[PMID]_25914718[PMID]","hgnc":"34399","ensembl":"ENSG00000204922","omim":"616097","loci":["11q12.3"]},{"symbol":"UQCRB","name":"ubiquinol-cytochrome c reductase binding protein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"12709789[PMID]_25914718[PMID]","hgnc":"12582","ensembl":"ENSG00000156467","omim":"191330","loci":["8q22.1"]},{"symbol":"UQCRC2","name":"ubiquinol-cytochrome c reductase core protein 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23281071[PMID]_25914718[PMID]","hgnc":"12586","ensembl":"ENSG00000140740","omim":"191329","loci":["16p12.2"]},{"symbol":"UQCRFS1","name":"ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"32001716[PMID]","hgnc":"12587","ensembl":"ENSG00000169021","omim":"191327","loci":["19q12"]},{"symbol":"UQCRQ","name":"ubiquinol-cytochrome c reductase complex III subunit VII","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"18439546[PMID]_25914718[PMID]","hgnc":"29594","ensembl":"ENSG00000164405","omim":"612080","loci":["5q31.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive","Mitochondrial inheritance"],"onset":["Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":74.0,"area":"Worldwide","status":"Validated","source":"31883641[PMID]_34750991[PMID]_11528392[PMID]_21278747[PMID]_23532514[PMID]_24368687[PMID]_24397319[PMID]_12709789[PMID]_18439546[PMID]_23281071[PMID]_23910460[PMID]_26912632[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"31883641[PMID]_34750991[PMID]_11528392[PMID]_21278747[PMID]_23532514[PMID]_24368687[PMID]_24397319[PMID]_12709789[PMID]_18439546[PMID]_23281071[PMID]_23910460[PMID]_26912632[PMID]_ORPHANET"}],"phenotypes":null}