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mitochondrial complex IV deficiency, nuclear type 11 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

mitochondrial complex IV deficiency, nuclear type 11

MONDO:0033645

Also known as:MC4DN11

Overview

Any mitochondrial complex IV deficiency in which the cause of the disease is a mutation in the COX20 gene.

GeneticsAutosomal recessive · COX20 (chr 1)

OnsetJUVENILE

ResearchLimited published research (3 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: Delayed speech and language development, Dysarthria, Increased circulating lactate concentration, and Low muscle tone (hypotonia) and others; and common findings: Torticollis, Babinski sign, Choreoathetosis, and Limb dystonia and others. 18 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	6	Delayed speech and language development, Babinski sign, Limb dystonia

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.

COX20 encodes cytochrome c oxidase assembly factor COX20 (118 aa). Essential for the assembly of the mitochondrial respiratory chain complex IV (CIV), also known as cytochrome c oxidase. Highest expression in Testis (20.7 TPM) and Brain Cerebellar Hemisphere (20.1 TPM).

Mitochondrial complex IV deficiency, nuclear type 11 is associated with mutations in the COX20 gene on chromosome 1.

The COX20 protein participates in COX18 inserts nascent MT-CO2 in COX20:TMEM77 pathway.

COX20 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for COX20 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 9 always present features, 6 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 11.

3 publications have been identified in PubMed for mitochondrial complex IV deficiency, nuclear type 11. Research spans Basic Science / Preclinical (67%) and Case Report / Case Series (33%).

Recent Publications

Kim TY (2026). [PMID: 41621246](https://pubmed.ncbi.nlm.nih.gov/41621246/). *Redox Biol*. [Basic Science / Preclinical]
Yang Z (2026). [PMID: 40537021](https://pubmed.ncbi.nlm.nih.gov/40537021/). *Neural Regen Res*. [Basic Science / Preclinical]
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, 4:30 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619054

GARD

Genetic and Rare Diseases Info Center

GARD:16409

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 11

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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