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mitochondrial complex IV deficiency, nuclear type 10 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

mitochondrial complex IV deficiency, nuclear type 10

MONDO:0033639

Also known as:MC4DN10

Overview

Any mitochondrial complex IV deficiency in which the cause of the disease is a mutation in the COX14 gene.

GeneticsAutosomal recessive · COX14 (chr 12)

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: Oligohydramnios, Renal hypoplasia, Increased circulating lactate concentration, and Enlarged liver (hepatomegaly) and others.

Organ System	Phenotype Count	Example Features
Kidneys and urinary system	1	Renal hypoplasia

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.

COX14 encodes cytochrome c oxidase assembly factor COX14 (57 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 Adipose Subcutaneous (113.4 TPM) and Adipose Visceral Omentum (100.2 TPM).

Mitochondrial complex IV deficiency, nuclear type 10 is associated with mutations in the COX14 gene on chromosome 12.

COX14 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for COX14 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 14 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 10.

2 publications have been identified in PubMed for mitochondrial complex IV deficiency, nuclear type 10. Research spans Other (50%) and Review / Meta-Analysis (50%).

Recent Publications

Kaiyrzhanov R (2025). [PMID: 39963288](https://pubmed.ncbi.nlm.nih.gov/39963288/). *Brain Commun*. [Other]
Barbato A (2024). [PMID: 39214134](https://pubmed.ncbi.nlm.nih.gov/39214134/). *Endocr Connect*. [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:619053

GARD

Genetic and Rare Diseases Info Center

GARD:16408

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 10

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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