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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

13 clinical trials for this condition and its sub-types, 1 tagged with Mitochondrial complex IV deficiency, nuclear-type itself.

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Where it sits in the disease tree

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↑ Mitochondrial respiratory chain complex deficiency (5)

Sub-types of Mitochondrial complex IV deficiency, nuclear-type

COX deficiency, benign infantile mitochondrial myopathy 0 trials
Mitochondrial complex 4 deficiency, nuclear type 25 0 trials
Mitochondrial complex IV deficiency, nuclear type 1 0 trials
Mitochondrial complex IV deficiency, nuclear type 10 0 trials
Mitochondrial complex IV deficiency, nuclear type 11 0 trials
Mitochondrial complex IV deficiency, nuclear type 12 0 trials
Mitochondrial complex IV deficiency, nuclear type 14 0 trials
Mitochondrial complex IV deficiency, nuclear type 15 0 trials
Mitochondrial complex IV deficiency, nuclear type 16 0 trials
Mitochondrial complex IV deficiency, nuclear type 17 0 trials
Mitochondrial complex IV deficiency, nuclear type 18 0 trials
Mitochondrial complex IV deficiency, nuclear type 19 0 trials
Mitochondrial complex IV deficiency, nuclear type 20 0 trials
Mitochondrial complex IV deficiency, nuclear type 21 0 trials
Mitochondrial complex IV deficiency, nuclear type 22 0 trials
Mitochondrial complex IV deficiency, nuclear type 23 0 trials
Mitochondrial complex IV deficiency, nuclear type 24 0 trials
Mitochondrial complex IV deficiency, nuclear type 3 0 trials
Mitochondrial complex IV deficiency, nuclear type 4 0 trials
Mitochondrial complex IV deficiency, nuclear type 7 0 trials
Mitochondrial complex IV deficiency, nuclear type 8 0 trials
Pancreatic insufficiency-anemia-hyperostosis syndrome 0 trials

Including sub-types (13) Tagged with Mitochondrial complex IV deficiency, nuclear-type (1)

Trials to join now! 1

Scientists launch massive mitochondrial disease registry to unlock secrets of rare disorders

Knowledge-focused Recruiting now

This study is creating a large registry and tissue bank for people with mitochondrial disorders. Researchers will collect medical information and samples from up to 1,000 participants, including those diagnosed with or suspected to have a mitochondrial disease. The goal is to gat…

Sponsor: Columbia University • Aim: Knowledge-focused

Last updated Jun 27, 2026 09:01 UTC

Mitochondrial complex IV deficiency, nuclear-type

Where it sits in the disease tree

Scientists launch massive mitochondrial disease registry to unlock secrets of rare disorders