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mitochondrial complex IV deficiency, nuclear type 20 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

mitochondrial complex IV deficiency, nuclear type 20

MONDO:0033655

Also known as:MC4DN20

Overview

Any mitochondrial complex IV deficiency in which the cause of the disease is a mutation in the COX5A gene.

GeneticsAutosomal recessive · COX5A (chr 15)

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: Increased circulating lactate concentration, High blood pressure in lung arteries (pulmonary arterial hypertension), and Elevated circulating hepatic transaminase concentration; and common findings: Lethargy, Wide anterior fontanel, Deeply set eye, and Long eyelashes and others. 17 total HPO annotations.

Organ System	Phenotype Count	Example Features
Lab test results	3

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.

COX5A encodes cytochrome c oxidase subunit 5A (150 aa). Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation. Highest expression in Heart Left Ventricle (421.1 TPM) and Muscle Skeletal (389.6 TPM).

Mitochondrial complex IV deficiency, nuclear type 20 is associated with mutations in the COX5A gene on chromosome 15.

The COX5A protein participates in TIMM21 carries COX4, COX5A, COX6C to MT-CO1:MITRAC, TIMM23 SORT inserts proteins into inner membrane, and AFG3L2 degrades mitochondrial inner membrane proteins pathways.

COX5A is classified as a druggable target (Enzyme and Transporter categories) with score 0.0.

Diagnosis

Genetic testing for COX5A is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 3 always present features, 8 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 IV deficiency, nuclear type 20.

4 publications have been identified in PubMed for mitochondrial complex IV deficiency, nuclear type 20. Research spans Basic Science / Preclinical (75%) and Review / Meta-Analysis (25%).

Recent Publications

Čunátová K (2026). [PMID: 41419202](https://pubmed.ncbi.nlm.nih.gov/41419202/). *J Biol Chem*. [Basic Science / Preclinical]
He X (2026). [PMID: 41580081](https://pubmed.ncbi.nlm.nih.gov/41580081/). *J Biol Chem*. [Basic Science / Preclinical]
Zhang L (2025). [PMID: 39716856](https://pubmed.ncbi.nlm.nih.gov/39716856/). *Adv Sci (Weinh)*. [Basic Science / Preclinical]
Pham L (2024). [PMID: 39566165](https://pubmed.ncbi.nlm.nih.gov/39566165/). *Redox Biol*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:54 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619064

GARD

Genetic and Rare Diseases Info Center

GARD:16417

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 IV deficiency, nuclear type 20

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

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