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

mitochondrial complex I deficiency, nuclear type 9 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

mitochondrial complex I deficiency, nuclear type 9

MONDO:0032615

Also known as:MC1DN9

Overview

GeneticsAutosomal recessive · NDUFS6 (chr 5)

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: Decreased activity of mitochondrial complex I and Lactic acidosis; and rarely findings: Seizure. 10 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	2	Encephalopathy, Seizure

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.

NDUFS6 encodes NADH:ubiquinone oxidoreductase subunit S6 (124 aa). Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Highest expression in Heart Left Ventricle (98.6 TPM) and Testis (81.4 TPM).

Mitochondrial complex I deficiency, nuclear type 9 is associated with mutations in the NDUFS6 gene on chromosome 5.

NDUFS6 is classified as a druggable target (Enzyme category) with score 0.3.

Diagnosis

Genetic testing for NDUFS6 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 2 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 I deficiency, nuclear type 9.

2 publications have been identified in PubMed for mitochondrial complex I deficiency, nuclear type 9. Research spans Review / Meta-Analysis (50%) and Gene Therapy / Novel Therapeutics (50%).

Recent Publications

Blagonravov M (2026). [PMID: 41751243](https://pubmed.ncbi.nlm.nih.gov/41751243/). *Biomedicines*. [Review / Meta-Analysis]
Zhang X (2025). [PMID: 40399258](https://pubmed.ncbi.nlm.nih.gov/40399258/). *Cell death discovery*. [Gene Therapy / Novel Therapeutics]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 11:54 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618232

GARD

Genetic and Rare Diseases Info Center

GARD:16319

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

mitochondrial complex I deficiency, nuclear type 9

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features