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mitochondrial complex V (ATP synthase) deficiency, nuclear type 7 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

mitochondrial complex V (ATP synthase) deficiency, nuclear type 7

MONDO:0957255

Overview

GeneticsAutosomal recessive · ATP5PO (chr 21)

ResearchLimited published research (5 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 always present findings: Dystonia, Seizure, Low muscle tone (hypotonia), and Global developmental delay and others.

Organ System	Phenotype Count	Example Features
Brain and nerves	6	Dystonia, Seizure, Global developmental delay

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.

ATP5PO encodes ATP synthase peripheral stalk subunit OSCP (213 aa). Subunit OSCP, 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 Heart Left Ventricle (375.0 TPM) and Heart Atrial Appendage (324.0 TPM).

Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7 is associated with mutations in the ATP5PO gene on chromosome 21.

ATP5PO is classified as a druggable target with score 17.4.

Diagnosis

Genetic testing for ATP5PO is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 9 always present features.

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 7.

5 publications have been identified in PubMed for mitochondrial complex V (ATP synthase) deficiency, nuclear type 7. Research spans Basic Science / Preclinical (60%) and Review / Meta-Analysis (40%).

Recent Publications

Meyfour A (2025). [PMID: 41258049](https://pubmed.ncbi.nlm.nih.gov/41258049/). *Sci Rep*. [Basic Science / Preclinical]
Fielder SM (2025). [PMID: 40672495](https://pubmed.ncbi.nlm.nih.gov/40672495/). *medRxiv*. [Basic Science / Preclinical]
Torregrosa-Muñumer R (2025). [PMID: 41381852](https://pubmed.ncbi.nlm.nih.gov/41381852/). *Commun Biol*. [Basic Science / Preclinical]
Panneerselvam K (2025). [PMID: 40855644](https://pubmed.ncbi.nlm.nih.gov/40855644/). *Proteomics*. [Review / Meta-Analysis]
Zhang X (2024). [PMID: 39850733](https://pubmed.ncbi.nlm.nih.gov/39850733/). *Front Neurol*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 11:32 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620359

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 7

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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Questions for Your Care Team

Questions for Your Care Team

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