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

Findings

No curated finding names mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Inheritance

Autosomal recessive inheritance

HPO, annotations 2026-09-02

What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

Where it sits

A kind of

• mitochondrial proton-transporting ATP synthase complex deficiency
• mitochondrial respiratory chain complex deficiency

Resolves to: mitochondrial complex V (ATP synthase) deficiency, nuclear type 3

Also called

ATP5F1E mitochondrial proton-transporting ATP synthase complex deficiencyMC5DN3mitochondrial proton-transporting ATP synthase complex deficiency caused by mutation in ATP5F1E