Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3

MONDO:0013547

Any mitochondrial proton-transporting ATP synthase complex deficiency in which the cause of the disease is a mutation in the ATP5F1E gene.

Also known as: ATP5F1E mitochondrial proton-transporting ATP synthase complex deficiency, MC5DN3, mitochondrial complex V (ATP synthase) deficiency, nuclear type 3, mitochondrial proton-transporting ATP synthase complex deficiency caused by mutation in ATP5F1E, mitochondrial Complex 5 (ATP synthase) deficiency, Atp5E type

13 clinical trials for this condition and its sub-types, 0 tagged with Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 itself.

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Where it sits in the disease tree

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↑ Mitochondrial respiratory chain complex deficiency (5) ↑ Mitochondrial proton-transporting ATP synthase complex deficiency (0)

Including sub-types (13) Tagged with Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 (0)

Trials to join now! 5 Not yet recruiting 1 Not yet finished but already full! 4 Completed 2 Terminated 1

New DNA test could end years of uncertainty for mitochondrial disease patients

Diagnosis Not yet recruiting

This pilot study aims to develop a new digital PCR technique to more accurately diagnose mitochondrial diseases. Researchers will test the method on blood, urine, saliva, and muscle fiber samples from 4 patients. If validated, the technique could be faster and cheaper than curren…

Sponsor: Centre Hospitalier Universitaire de Nice • Aim: Diagnosis

Last updated Jun 27, 2026 12:04 UTC

Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3

Where it sits in the disease tree

New DNA test could end years of uncertainty for mitochondrial disease patients