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mitochondrial complex IV deficiency, nuclear type 14 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

mitochondrial complex IV deficiency, nuclear type 14

MONDO:0033649

Also known as:MC4DN14

Overview

Any mitochondrial complex IV deficiency in which the cause of the disease is a mutation in the COA3 gene.

GeneticsAutosomal recessive · COA3 (chr 17)

ResearchLimited published research (1 article)

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: Epicanthus, Difficulty with thinking and memory (cognitive impairment), Short stature, and Nerve damage affecting sensation and movement (sensorimotor neuropathy) and others.

Organ System	Phenotype Count	Example Features
Brain and nerves	4	Difficulty with thinking and memory (cognitive impairment), Nerve damage affecting sensation and movement (sensorimotor neuropathy), 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.

COA3 encodes cytochrome c oxidase assembly factor 3 (106 aa). Core component of the MITRAC (mitochondrial translation regulation assembly intermediate of cytochrome c oxidase complex) complex, that regulates cytochrome c oxidase assembly. Highest expression in Kidney Medulla (196.4 TPM) and Kidney Cortex (125.2 TPM).

Mitochondrial complex IV deficiency, nuclear type 14 is associated with mutations in the COA3 gene on chromosome 17.

The COA3 protein participates in Metallochaperone inserts 2Cu2+ into MT-CO2 and Metallochaperone inserts Cu2+ into MT-CO1 pathways.

COA3 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for COA3 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 10 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 14.

1 publication has been identified in PubMed for mitochondrial complex IV deficiency, nuclear type 14. Research spans Review / Meta-Analysis (100%).

Recent Publications

Antolínez-Fernández Á (2024). [PMID: 38855161](https://pubmed.ncbi.nlm.nih.gov/38855161/). *Front Cell Dev Biol*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 11:54 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619058

GARD

Genetic and Rare Diseases Info Center

GARD:16411

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 14

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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