mitochondrial complex V (ATP synthase) deficiency, nuclear type 5

Rare Disease

MONDO:0020858

Also Known As

MC5DN5MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5Mitochondrial Complex 5 (ATP Synthase) Deficiency, ATP5F1D Typemitochondrial complex v (atp synthase) deficiency

Definition

Any mitochondrial complex deficiency in which the cause of the disease is a mutation in the ATP5F1D gene.

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Associated Genes

ATP5F1D ↗

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

OMIM

OMIM:618120 ↗

GARD

GARD:18670 ↗

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