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mitochondrial complex I deficiency, nuclear type 24 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

mitochondrial complex I deficiency, nuclear type 24

MONDO:0032628

Also known as:MC1DN24

Overview

GeneticsAutosomal recessive · NDUFB9 (chr 8)

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: Increased circulating lactate concentration, Low muscle tone (hypotonia), and Decreased activity of mitochondrial complex I.

Organ System	Phenotype Count	Example Features
Lab test results	2	Increased circulating lactate concentration, Decreased activity of mitochondrial complex I

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.

NDUFB9 encodes NADH:ubiquinone oxidoreductase subunit B9 (179 aa). Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed to be not involved in catalysis. Highest expression in Muscle Skeletal (299.5 TPM) and Heart Left Ventricle (188.2 TPM).

Mitochondrial complex I deficiency, nuclear type 24 is associated with mutations in the NDUFB9 gene on chromosome 8.

NDUFB9 is classified as a druggable target (Enzyme category) with score 0.3.

Diagnosis

Genetic testing for NDUFB9 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 3 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 24.

6 publications have been identified in PubMed for mitochondrial complex I deficiency, nuclear type 24. Research spans Basic Science / Preclinical (50%), Review / Meta-Analysis (33%), and Case Report / Case Series (17%).

Recent Publications

Yang Q (2026). [PMID: 41982415](https://pubmed.ncbi.nlm.nih.gov/41982415/). *Front Neurol*. [Case Report / Case Series]
Bozdemir N (2025). [PMID: 40452557](https://pubmed.ncbi.nlm.nih.gov/40452557/). *Genesis*. [Review / Meta-Analysis]
Pan JH (2025). [PMID: 41258072](https://pubmed.ncbi.nlm.nih.gov/41258072/). *Exp Mol Med*. [Basic Science / Preclinical]
Liu XL (2025). [PMID: 41354732](https://pubmed.ncbi.nlm.nih.gov/41354732/). *Cell Death Dis*. [Basic Science / Preclinical]
Chen YL (2025). [PMID: 40025060](https://pubmed.ncbi.nlm.nih.gov/40025060/). *Cell Death Discov*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 6:21 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618245

GARD

Genetic and Rare Diseases Info Center

GARD:16328

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 I deficiency, nuclear type 24

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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