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mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

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

MONDO:0013547

Also known as:ATP5F1E mitochondrial proton-transporting ATP synthase complex deficiencyMC5DN3mitochondrial proton-transporting ATP synthase complex deficiency caused by mutation in ATP5F1E

Overview

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

GeneticsAutosomal recessive · ATP5F1E (chr 20)

OnsetNEONATAL

ResearchLimited published research (3 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include: Thickened heart muscle (hypertrophic cardiomyopathy), Decreased activity of mitochondrial ATP synthase complex, Peripheral neuropathy, and Intellectual disability and 2 more.

Organ System	Phenotype Count	Example Features
Brain and nerves	2	Peripheral neuropathy, Intellectual disability

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

ATP5F1E encodes ATP synthase F1 subunit epsilon (51 aa). Subunit epsilon, of the mitochondrial membrane ATP synthase complex (F(1)F(0) ATP synthase or Complex V) that produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. Highest expression in Cells EBV-transformed lymphocytes (138.8 TPM) and Pituitary (138.3 TPM).

Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 is associated with mutations in the ATP5F1E gene on chromosome 20.

ATP5F1E is classified as a druggable target (Transporter category) with score 3.7.

Diagnosis

Genetic testing for ATP5F1E is available. Testing is considered confirmatory for diagnosis.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for mitochondrial complex V (ATP synthase) deficiency, nuclear type 3.

3 publications have been identified in PubMed for mitochondrial complex V (ATP synthase) deficiency, nuclear type 3. Research spans Case Report / Case Series (67%) and Review / Meta-Analysis (33%).

Recent Publications

Fielder SM (2025). [PMID: 40672495](https://pubmed.ncbi.nlm.nih.gov/40672495/). *medRxiv : the preprint server for health sciences*. [Case Report / Case Series]
İpek R (2025). [PMID: 40014158](https://pubmed.ncbi.nlm.nih.gov/40014158/). *Neurogenetics*. [Case Report / Case Series]
Zhang X (2024). [PMID: 39850733](https://pubmed.ncbi.nlm.nih.gov/39850733/). *Frontiers in neurology*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 12:16 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614053

GARD

Genetic and Rare Diseases Info Center

GARD:18666

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

Questions for Your Care Team

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