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5C53.2Y Other specified disorders of mitochondrial oxidative phosphorylation

International Classification of Diseases for Mortality and Morbidity Statistics, 11th Revision, v2024-01

synonyms

• Other specified disorders of mitochondrial oxidative phosphorylation
• Mitochondrial oxidative phosphorylation disorders due to mitochondrial DNA anomalies
• Respiratory chain disorders caused by mutations of mtDNA
• OXPHOS - [oxidative phosphorylation] diseases due to mtDNA anomalies
• Proximal tubulopathy - diabetes mellitus - cerebellar ataxia
• Large-scale single deletions of mitochondrial DNA
• Duplications of mitochondrial DNA
• Mitochondrial oxidative phosphorylation disorders due to nuclear DNA anomalies
• Respiratory chain disorders caused by mutations of nuclear DNA
• OXPHOS - [oxidative phosphorylation] diseases due to nDNA anomalies
• GRACILE - [Growth delay - aminoaciduria - cholestasis - iron overload - lactic acidosis - early death] syndrome
• Growth delay - aminoaciduria - cholestasis - iron overload - lactic acidosis - early death
• Cardioencephalopathy with hyperammonaemia
• Mitochondrial respiratory chain complex V deficiency
• Mitochondrial encephalocardiomyopathy due to TMEM70 deficiency
• ATP synthase deficiency caused by TMEM70 deficiency
• F1Fo ATPase deficiency
• ATP synthase deficiency, nuclear-encoded
• Exercise intolerance with lactic acidosis
• Isolated oxidative phosphorylation defects with variable phenotype, not elsewhere classified
• Mitochondrial respiratory chain complex I structural subunit gene defect
• Mitochondrial respiratory chain complex I assembly gene defect
• Mitochondrial respiratory chain complex II structural subunit gene defect
• Mitochondrial respiratory chain complex II assembly gene defect
• Mitochondrial respiratory chain complex III structural subunit gene defect
• Mitochondrial respiratory chain complex III assembly gene defect
• Mitochondrial respiratory chain complex IV structural subunit gene defect
• Mitochondrial respiratory chain complex IV assembly gene defect
• ATP synthase structural subunit gene defect
• Mitochondrial respiratory chain complex V structural subunit gene defect
• ATP synthase assembly gene defect
• Mitochondrial respiratory chain complex V assembly gene defect
• Renal tubulopathy - encephalopathy - liver failure
• Mitochondrial oxidative phosphorylation disorders with no known genetic basis
• Respiratory chain deficiencies with no known genetic basis
• OXPHOS - [oxidative phosphorylation] diseases due to unspecified DNA anomalies
• Deafness - opticoacoustic nerve atrophy - dementia
• Jensen syndrome
• FASTKD2-related infantile mitochondrial encephalomyopathy
• Succinic acidaemia
• Zellweger-like syndrome without peroxisomal anomalies
• Ahn-Lerman-Sagie syndrome
• Isolated mitochondrial respiratory chain complex I deficiency
• Nicotinamide-adenine-dinucleotide coenzyme Q reductase deficiency
• Ubiquinone deficiency
• NADH-CoQ - [Nicotinamide-adenine-dinucleotide coenzyme Q] reductase deficiency
• Isolated mitochondrial respiratory chain complex II deficiency
• Succinate coenzyme Q reductase deficiency
• Succinate-CoQ reductase deficiency
• Isolated mitochondrial respiratory chain complex III deficiency
• Coenzyme Q cytochrome C reductase deficiency
• Ubiquinone dehydrogenase deficiency
• Isolated mitochondrial respiratory chain complex IV deficiency
• Cytochrome C oxidase deficiency
• Ataxia - leukodystrophy - tubulopathy, due to cytochrome C oxidase deficiency
• Pancreatic insufficiency - anaemia - hyperostosis

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