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mitochondrial complex IV deficiency, nuclear type 15 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

mitochondrial complex IV deficiency, nuclear type 15

MONDO:0033650

Also known as:MC4DN15

Overview

Any mitochondrial complex IV deficiency in which the cause of the disease is a mutation in the COX8A gene.

GeneticsAutosomal recessive · COX8A (chr 11)

OnsetINFANTILE, CONGENITAL, JUVENILE

ResearchLimited published research (6 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: Hyporeflexia, Microcephaly, Sideways curvature of the spine (scoliosis), and Short stature and others.

Organ System	Phenotype Count	Example Features
Brain and nerves	8	Hyporeflexia, Atonic 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.

COX8A encodes cytochrome c oxidase subunit 8A (69 aa). Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation. Highest expression in Cells EBV-transformed lymphocytes (798.8 TPM) and Kidney Medulla (746.0 TPM).

Mitochondrial complex IV deficiency, nuclear type 15 is associated with mutations in the COX8A gene on chromosome 11.

COX8A is classified as a druggable target (Enzyme category) with score 2.4.

Diagnosis

Genetic testing for COX8A is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 22 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 IV deficiency, nuclear type 15.

6 publications have been identified in PubMed for mitochondrial complex IV deficiency, nuclear type 15. Research spans Basic Science / Preclinical (83%) and Review / Meta-Analysis (17%).

Recent Publications

Zhang L (2025). [PMID: 39716856](https://pubmed.ncbi.nlm.nih.gov/39716856/). *Adv Sci (Weinh)*. [Basic Science / Preclinical]
Goldman C (2025). [PMID: 40612515](https://pubmed.ncbi.nlm.nih.gov/40612515/). *iScience*. [Basic Science / Preclinical]
Mu C (2025). [PMID: 41422086](https://pubmed.ncbi.nlm.nih.gov/41422086/). *Cell Death Dis*. [Basic Science / Preclinical]
Zhan Y (2025). [PMID: 40551575](https://pubmed.ncbi.nlm.nih.gov/40551575/). *Clin Transl Med*. [Basic Science / Preclinical]
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 19, 2026, 4:30 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619059

GARD

Genetic and Rare Diseases Info Center

GARD:16412

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 15

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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