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mitochondrial complex IV deficiency, nuclear type 7 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

mitochondrial complex IV deficiency, nuclear type 7

MONDO:0033637

Also known as:MC4DN7

Overview

Any mitochondrial complex IV deficiency in which the cause of the disease is a mutation in the COX6B1 gene.

GeneticsAutosomal recessive · COX6B1 (chr 19)

OnsetJUVENILE

ResearchLimited published research (6 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: Hyperketonemia, Generalized hypotonia, Cerebral visual impairment, and Hyperammonemia and others. 26 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	5	Cerebral visual impairment, Enlarged brain ventricles (ventriculomegaly), Mental deterioration

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.

COX6B1 encodes cytochrome c oxidase subunit 6B1 (86 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 (378.6 TPM) and Heart Atrial Appendage (371.4 TPM).

Mitochondrial complex IV deficiency, nuclear type 7 is associated with mutations in the COX6B1 gene on chromosome 19.

COX6B1 is classified as a druggable target (Enzyme category) with score 0.0.

Diagnosis

Genetic testing for COX6B1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 21 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 7.

6 publications have been identified in PubMed for mitochondrial complex IV deficiency, nuclear type 7. Research spans Review / Meta-Analysis (33%), Basic Science / Preclinical (33%), and Other (17%).

Recent Publications

Zhang L (2025). [PMID: 39716856](https://pubmed.ncbi.nlm.nih.gov/39716856/). *Adv Sci (Weinh)*. [Basic Science / Preclinical]
Kaiyrzhanov R (2025). [PMID: 39963288](https://pubmed.ncbi.nlm.nih.gov/39963288/). *Brain Commun*. [Other]
Iacobas DA (2025). [PMID: 41296444](https://pubmed.ncbi.nlm.nih.gov/41296444/). *Curr Issues Mol Biol*. [Basic Science / Preclinical]
Pham L (2024). [PMID: 39566165](https://pubmed.ncbi.nlm.nih.gov/39566165/). *Redox Biol*. [Review / Meta-Analysis]
Zhang X (2024). [PMID: 39850733](https://pubmed.ncbi.nlm.nih.gov/39850733/). *Front Neurol*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 9:39 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619051

GARD

Genetic and Rare Diseases Info Center

GARD:16406

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 7

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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