Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1

Definition

Any mitochondrial proton-transporting ATP synthase complex deficiency in which the cause of the disease is a mutation in the ATPAF2 gene.

Also known as ATPAF2 mitochondrial proton-transporting ATP synthase complex deficiency, MC5DN1, mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, mitochondrial proton-transporting ATP synthase complex deficiency caused by mutation in ATPAF2 — per MONDO

Also identified as

• DOID 0050768 per MONDO
• OMIM 604273 per MONDO
• UMLS C3276276 per MONDO