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Mitochondrial complex IV deficiency, nuclear-type

MONDO:0033885

A very rare inherited metabolic disorder characterized by deficiency of the enzyme cytochrome-C oxidase. It may be manifested as an isolated myopathy or a systemic disorder. Signs and symptoms include myotonia, dysfunction of the heart, kidney, and brain, and lactic acidosis.

Also known as: Cytochrome C Oxidase Deficiency, cytochrome-C oxidase deficiency, cytochrome-c oxidase deficiency disease, isolated COX deficiency, isolated mitochondrial respiratory chain complex IV deficiency, mitochondrial complex IV deficiency, mitochondrial respiratory complex IV deficiency, COX deficiency

40 clinical trials for this condition and its sub-types.

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Sub-types

COX deficiency, benign infantile mitochondrial myopathy (0) Mitochondrial complex 4 deficiency, nuclear type 25 (0) Mitochondrial complex IV deficiency, nuclear type 1 (0) Mitochondrial complex IV deficiency, nuclear type 10 (0) Mitochondrial complex IV deficiency, nuclear type 11 (0) Mitochondrial complex IV deficiency, nuclear type 12 (0) Mitochondrial complex IV deficiency, nuclear type 14 (0) Mitochondrial complex IV deficiency, nuclear type 15 (0) Mitochondrial complex IV deficiency, nuclear type 16 (0) Mitochondrial complex IV deficiency, nuclear type 17 (0) Mitochondrial complex IV deficiency, nuclear type 18 (0) Mitochondrial complex IV deficiency, nuclear type 19 (0) Mitochondrial complex IV deficiency, nuclear type 20 (0) Mitochondrial complex IV deficiency, nuclear type 21 (0) Mitochondrial complex IV deficiency, nuclear type 22 (0) Mitochondrial complex IV deficiency, nuclear type 23 (0) Mitochondrial complex IV deficiency, nuclear type 24 (0) Mitochondrial complex IV deficiency, nuclear type 3 (0) Mitochondrial complex IV deficiency, nuclear type 4 (0) Mitochondrial complex IV deficiency, nuclear type 7 (0)

Broader categories

Disease (618) Metabolic disease (215) Hereditary disease (172) Inborn mitochondrial metabolism disorder (57) Inborn errors of metabolism (42) Mitochondrial disease (39) Human disease (14) Developmental defect during embryogenesis (7) Mitochondrial respiratory chain complex deficiency (4) Mitochondrial oxidative phosphorylation disorder (3)
Trials to join now! 19 Not yet recruiting 4 Not yet finished but already full! 7 Completed 9 Terminated 1
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