DISEASES Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn [C16.320] Genetic Diseases, Inborn Metabolism, Inborn Errors [C16.320.565] Metabolism, Inborn Errors Amino Acid Metabolism, Inborn Errors [C16.320.565.100] Amino Acid Metabolism, Inborn Errors Amino Acid Transport Disorders, Inborn [C16.320.565.151] Amino Acid Transport Disorders, Inborn Amyloidosis, Familial [C16.320.565.176] Amyloidosis, Familial Brain Diseases, Metabolic, Inborn [C16.320.565.189] Brain Diseases, Metabolic, Inborn Carbohydrate Metabolism, Inborn Errors [C16.320.565.202] Carbohydrate Metabolism, Inborn Errors Cytochrome-c Oxidase Deficiency [C16.320.565.240] Cytochrome-c Oxidase Deficiency Hyperbilirubinemia, Hereditary [C16.320.565.300] Hyperbilirubinemia, Hereditary Lipid Metabolism, Inborn Errors [C16.320.565.398] Lipid Metabolism, Inborn Errors Lysosomal Storage Diseases [C16.320.565.595] Lysosomal Storage Diseases Metal Metabolism, Inborn Errors [C16.320.565.618] Metal Metabolism, Inborn Errors Peroxisomal Disorders [C16.320.565.663] Peroxisomal Disorders Progeria [C16.320.565.753] Progeria Purine-Pyrimidine Metabolism, Inborn Errors [C16.320.565.798] Purine-Pyrimidine Metabolism, Inborn Errors Renal Tubular Transport, Inborn Errors [C16.320.565.893] Renal Tubular Transport, Inborn Errors Steroid Metabolism, Inborn Errors [C16.320.565.925] Steroid Metabolism, Inborn Errors DISEASES Nutritional and Metabolic Diseases [C18] Nutritional and Metabolic Diseases Metabolic Diseases [C18.452] Metabolic Diseases Mitochondrial Diseases [C18.452.660] Mitochondrial Diseases Carbamoyl-Phosphate Synthase I Deficiency Disease [C18.452.660.097] Carbamoyl-Phosphate Synthase I Deficiency Disease Cytochrome-c Oxidase Deficiency [C18.452.660.195] Cytochrome-c Oxidase Deficiency Friedreich Ataxia [C18.452.660.300] Friedreich Ataxia Leigh Disease [C18.452.660.520] Leigh Disease Mitochondrial Myopathies [C18.452.660.560] Mitochondrial Myopathies Multiple Acyl Coenzyme A Dehydrogenase Deficiency [C18.452.660.612] Multiple Acyl Coenzyme A Dehydrogenase Deficiency Optic Atrophy, Autosomal Dominant [C18.452.660.665] Optic Atrophy, Autosomal Dominant Optic Atrophy, Hereditary, Leber [C18.452.660.670] Optic Atrophy, Hereditary, Leber Pyruvate Carboxylase Deficiency Disease [C18.452.660.705] Pyruvate Carboxylase Deficiency Disease Pyruvate Dehydrogenase Complex Deficiency Disease [C18.452.660.710] Pyruvate Dehydrogenase Complex Deficiency Disease

Cytochrome-c Oxidase Deficiency - Preferred

Concept UI	M0335492
Scope note	A disease that results from a congenital defect in ELECTRON TRANSPORT COMPLEX IV. Defects in ELECTRON TRANSPORT COMPLEX IV can be caused by mutations in the SURF1, SCO2, COX10, or SCO1 genes. ELECTRON TRANSPORT COMPLEX IV deficiency caused by mutation in SURF1 manifests itself as LEIGH DISEASE; that caused by mutation in SCO2 as fatal infantile cardioencephalomyopathy; that caused by mutation in COX10 as tubulopathy and leukodystrophy; and that caused by mutation in SCO1 as early-onset hepatic failure and neurologic disorder. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim, MIM#220110, May 17, 2001)
Preferred term	Cytochrome-c Oxidase Deficiency
Entry term(s)	Complex IV Deficiencies Complex IV Deficiency Cox Deficiencies Cox Deficiency Cytochrome C Oxidase Deficiency Cytochrome Oxidase Deficiencies Cytochrome Oxidase Deficiency Cytochrome-c Oxidase Deficiencies Deficiencies, Complex IV Deficiencies, Cox Deficiencies, Cytochrome Oxidase Deficiencies, Cytochrome-c Oxidase Deficiency, Complex IV Deficiency, Cox Deficiency, Cytochrome Oxidase Deficiency, Cytochrome c Oxidase Deficiency, Cytochrome-c Oxidase Mitochondrial Complex IV Deficiency Oxidase Deficiencies, Cytochrome Oxidase Deficiencies, Cytochrome-c Oxidase Deficiency, Cytochrome Oxidase Deficiency, Cytochrome-c