Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

primary coenzyme Q10 deficiency 8 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

primary coenzyme Q10 deficiency 8

MONDO:0014754

Also known as:COQ10D8COQ7 coenzyme Q10 deficiencycoenzyme Q10 deficiency caused by mutation in COQ7

Overview

Any coenzyme Q10 deficiency in which the cause of the disease is a mutation in the COQ7 gene.

GeneticsAutosomal recessive · COQ7 (chr 16)

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: Hearing loss (hearing impairment), Pulmonary hypoplasia, Flexion contracture, and Polyneuropathy and 19 more.

Organ System	Phenotype Count	Example Features
Muscles	4	Flexion contracture, Low muscle tone (hypotonia), Generalized hypotonia

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.

COQ7 encodes coenzyme Q7, hydroxylase (217 aa). Catalyzes the hydroxylation of the 5-methoxy-2-methyl-3-(all-trans-polyprenyl)benzoquinone at the C6 position and participates in the biosynthesis of ubiquinone (Probable). Highest expression in Ovary (20.8 TPM) and Testis (19.7 TPM).

Primary coenzyme Q10 deficiency 8 is associated with mutations in the COQ7 gene on chromosome 16.

The COQ7 protein participates in COQ7:COQ9 octamer, COQ7:COQ9 octamer hydroxylates DMQ10H2, and COQ3 methylates DeMQ10H2 pathways.

COQ7 is classified as a druggable target (Enzyme category) with score 0.0.

Diagnosis

Genetic testing for COQ7 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for primary coenzyme Q10 deficiency 8 has been reported in the published literature.

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 primary coenzyme Q10 deficiency 8.

12 publications have been identified in PubMed for primary coenzyme Q10 deficiency 8. Research spans Case Report / Case Series (33%), Review / Meta-Analysis (25%), and Basic Science / Preclinical (25%).

Research Type	Count	% of Total
Patient case studies	4	33%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 7:50 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616733

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?

← Back to All Diseases

Kisho

primary coenzyme Q10 deficiency 8

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

primary coenzyme Q10 deficiency 8

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications