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mitochondrial complex IV deficiency, nuclear type 17 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

mitochondrial complex IV deficiency, nuclear type 17

MONDO:0033652

Also known as:MC4DN17

Overview

Any mitochondrial complex IV deficiency in which the cause of the disease is a mutation in the COA8 gene.

GeneticsAutosomal recessive · COA8 (chr 14)

ResearchLimited published research (2 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: Cavitating leukodystrophy and Decreased activity of mitochondrial complex IV; and very common findings: Loss of previously acquired skills (developmental regression) and Spastic tetraparesis. 11 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	8	Delayed speech and language development, Loss of previously acquired skills (developmental regression), Seizure

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.

COA8 encodes cytochrome c oxidase assembly factor 8 (206 aa). Required for cytochrome c complex (COX) IV assembly and function Protects COX assembly from oxidation-induced degradation, COX being the terminal component of the mitochondrial respiratory chain Highest expression in Testis (59.7 TPM) and Muscle Skeletal (28.6 TPM).

Mitochondrial complex IV deficiency, nuclear type 17 is associated with mutations in the COA8 gene on chromosome 14.

COA8 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for COA8 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 2 always present features, 2 very common features, 5 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 17.

2 publications have been identified in PubMed for mitochondrial complex IV deficiency, nuclear type 17. Research spans Case Report / Case Series (50%) and Basic Science / Preclinical (50%).

Recent Publications

Campos-Ribeiro MA (2026). [PMID: 41420107](https://pubmed.ncbi.nlm.nih.gov/41420107/). *EMBO Mol Med*. [Basic Science / Preclinical]
Tavasoli A (2024). [PMID: 38846886](https://pubmed.ncbi.nlm.nih.gov/38846886/). *Ann Med Surg (Lond)*. [Case Report / Case Series]

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:619061

GARD

Genetic and Rare Diseases Info Center

GARD:16414

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 17

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

Questions for Your Care Team

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