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mitochondrial complex IV deficiency, nuclear type 23 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

mitochondrial complex IV deficiency, nuclear type 23

MONDO:0859520

Overview

Any mitochondrial complex IV deficiency in which the cause of the disease is a mutation in the COX11 gene.

GeneticsAutosomal recessive · COX11 (chr 17)

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 always present findings: Brain atrophy and Increased circulating lactate concentration; and common findings: Inguinal hernia, Low muscle tone (hypotonia), Muscle stiffness (rigidity), and Elevated brain lactate level by MRS and others.

Organ System	Phenotype Count	Example Features
Brain and nerves	6	Muscle stiffness (rigidity), Elevated brain lactate level by MRS, Brain atrophy

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.

COX11 encodes cytochrome c oxidase copper chaperone COX11 (276 aa). Assembly factor for cytochrome c oxidase (respiratory chain complex IV, CIV). Probably acts as a metallochaperone that delivers copper to the copper B site of COX1 Highest expression in Artery Tibial (37.1 TPM) and Nerve Tibial (34.3 TPM).

Mitochondrial complex IV deficiency, nuclear type 23 is associated with mutations in the COX11 gene on chromosome 17.

The COX11 protein participates in Metallochaperone inserts 2Cu2+ into MT-CO2, Metallochaperone inserts Cu2+ into MT-CO1, and COX15 transforms heme O to heme A pathways.

COX11 is classified as a druggable target (Enzyme category) with score 7.5.

Diagnosis

Genetic testing for COX11 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 2 always present features, 24 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 23.

3 publications have been identified in PubMed for mitochondrial complex IV deficiency, nuclear type 23. Research spans Review / Meta-Analysis (67%) and Basic Science / Preclinical (33%).

Recent Publications

Moon S (2025). [PMID: 40112041](https://pubmed.ncbi.nlm.nih.gov/40112041/). *Plant Biotechnol J*. [Review / Meta-Analysis]
Vera-Vives AM (2025). [PMID: 40324757](https://pubmed.ncbi.nlm.nih.gov/40324757/). *Plant Cell*. [Basic Science / Preclinical]
Henke MT (2024). [PMID: 39385390](https://pubmed.ncbi.nlm.nih.gov/39385390/). *J Inherit Metab Dis*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 3:53 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620275

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 23

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

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