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mitochondrial complex V (ATP synthase) deficiency, nuclear type 5 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

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

MONDO:0020858

Also known as:MC5DN5Mitochondrial Complex 5 (ATP Synthase) Deficiency, ATP5F1D Typemitochondrial complex v (atp synthase) deficiency

Overview

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

GeneticsAutosomal recessive · ATP5F1D (chr 19)

ResearchLimited published research (4 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: Lethargy, Decreased activity of mitochondrial ATP synthase complex, Hypoglycemia, and Hyperammonemia and others; and common findings: Bilateral tonic-clonic seizure, Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration), Ketoacidosis, and Delayed speech and language development and others. 20 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	6

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.

ATP5F1D encodes ATP synthase F1 subunit delta (168 aa). Subunit delta, 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 Muscle Skeletal (391.8 TPM) and Heart Atrial Appendage (290.9 TPM).

Mitochondrial complex V (ATP synthase) deficiency, nuclear type 5 is associated with mutations in the ATP5F1D gene on chromosome 19.

ATP5F1D is classified as a druggable target (Transporter category) with score 0.9.

Diagnosis

Genetic testing for ATP5F1D is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 6 always present features, 12 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 5.

4 publications have been identified in PubMed for mitochondrial complex V (ATP synthase) deficiency, nuclear type 5. Research spans Basic Science / Preclinical (50%), Review / Meta-Analysis (25%), and Case Report / Case Series (25%).

Recent Publications

Panneerselvam K (2025). [PMID: 40855644](https://pubmed.ncbi.nlm.nih.gov/40855644/). *Proteomics*. [Review / Meta-Analysis]
İpek R (2025). [PMID: 40014158](https://pubmed.ncbi.nlm.nih.gov/40014158/). *Neurogenetics*. [Case Report / Case Series]
Fielder SM (2025). [PMID: 40672495](https://pubmed.ncbi.nlm.nih.gov/40672495/). *medRxiv*. [Basic Science / Preclinical]
Mulet I (2024). [PMID: 39557858](https://pubmed.ncbi.nlm.nih.gov/39557858/). *Nat Commun*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:55 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618120

GARD

Genetic and Rare Diseases Info Center

GARD:18670

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 5

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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