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mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A

MONDO:0957254

Overview

GeneticsAutosomal dominant · ATP5F1A (chr 18)

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: Hyperammonemia, Hyperprolinemia, Hyperalaninemia, and Feeding difficulties and others; and common findings: Acute encephalopathy, Dystonia, Low plasma citrulline, and Paraparesis and others.

Organ System	Phenotype Count	Example Features
Brain and nerves	10	Acute encephalopathy, Dystonia, Generalized dystonia

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.

ATP5F1A encodes ATP synthase F1 subunit alpha (553 aa). Subunit alpha, 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 (Probable). Highest expression in Heart Left Ventricle (327.3 TPM) and Muscle Skeletal (263.9 TPM).

Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A is associated with mutations in the ATP5F1A gene on chromosome 18.

The ATP5F1A protein participates in AFG3L2 degrades mitochondrial matrix proteins pathway.

ATP5F1A is classified as a druggable target (Cell Surface and Transporter categories) with score 1.3.

Diagnosis

Genetic testing for ATP5F1A is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 5 always present features, 20 common 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 4A.

5 publications have been identified in PubMed for mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A. Research spans Basic Science / Preclinical (100%).

Recent Publications

Zhang B (2026). [PMID: 41609019](https://pubmed.ncbi.nlm.nih.gov/41609019/). *Elife*. [Basic Science / Preclinical]
Xian C (2025). [PMID: 41053757](https://pubmed.ncbi.nlm.nih.gov/41053757/). *J Transl Med*. [Basic Science / Preclinical]
Dong H (2025). [PMID: 39878121](https://pubmed.ncbi.nlm.nih.gov/39878121/). *Autophagy*. [Basic Science / Preclinical]
Fielder SM (2025). [PMID: 40672495](https://pubmed.ncbi.nlm.nih.gov/40672495/). *medRxiv*. [Basic Science / Preclinical]
Cilleros-Holgado P (2024). [PMID: 38786005](https://pubmed.ncbi.nlm.nih.gov/38786005/). *Biomolecules*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 17, 2026, 10:23 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620358

Questions for Your Care Team

→Should I pursue genetic testing for ATP5F1A, and what would the results mean for my family?
→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 4A

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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