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mitochondrial complex IV deficiency, nuclear type 16 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

mitochondrial complex IV deficiency, nuclear type 16

MONDO:0033651

Also known as:MC4DN16

Overview

Any mitochondrial complex IV deficiency in which the cause of the disease is a mutation in the COX4I1 gene.

GeneticsAutosomal recessive · COX4I1 (chr 16)

OnsetINFANTILE, CHILDHOOD

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: Decreased body weight, Short stature, Shrinkage of the cerebellum (cerebellar atrophy), and Generalized hypotonia and others; and common findings: Poor head control, Short 5th toe, Hypsarrhythmia, and Short 4th toe and others.

Organ System	Phenotype Count	Example Features
Arms and legs	5	Short 5th toe, Short 4th toe, Short 2nd toe

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.

COX4I1 encodes cytochrome c oxidase subunit 4I1 (169 aa). Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation. Highest expression in Heart Left Ventricle (336.6 TPM) and Heart Atrial Appendage (317.1 TPM).

Mitochondrial complex IV deficiency, nuclear type 16 is associated with mutations in the COX4I1 gene on chromosome 16.

The COX4I1 protein participates in TIMM21 carries COX4, COX5A, COX6C to MT-CO1:MITRAC pathway.

COX4I1 is classified as a druggable target (Enzyme category) with score 52.2.

Diagnosis

Genetic testing for COX4I1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 16 always present features, 9 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 16.

1 publication has been identified in PubMed for mitochondrial complex IV deficiency, nuclear type 16. Research spans Case Report / Case Series (100%).

Recent Publications

Kuchina A (2025). [PMID: 41010014](https://pubmed.ncbi.nlm.nih.gov/41010014/). *Genes (Basel)*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 1:02 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619060

GARD

Genetic and Rare Diseases Info Center

GARD:16413

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 16

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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