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mitochondrial complex I deficiency, nuclear type 25 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

mitochondrial complex I deficiency, nuclear type 25

MONDO:0032629

Also known as:MC1DN25

Overview

GeneticsAutosomal recessive · NDUFB3 (chr 2)

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: Encephalopathy, Myopathy, Feeding difficulties, and Low muscle tone (hypotonia) and others.

Organ System	Phenotype Count	Example Features
Brain and nerves	2	Encephalopathy, Global developmental delay

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.

NDUFB3 encodes NADH:ubiquinone oxidoreductase subunit B3 (98 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 (145.0 TPM) and Cells EBV-transformed lymphocytes (128.5 TPM).

Mitochondrial complex I deficiency, nuclear type 25 is associated with mutations in the NDUFB3 gene on chromosome 2.

NDUFB3 is classified as a druggable target (Enzyme category) with score 0.3.

Diagnosis

Genetic testing for NDUFB3 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 11 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 25.

3 publications have been identified in PubMed for mitochondrial complex I deficiency, nuclear type 25. Research spans Case Report / Case Series (67%) and Review / Meta-Analysis (33%).

Recent Publications

Kaiyrzhanov R (2025). [PMID: 39963288](https://pubmed.ncbi.nlm.nih.gov/39963288/). *Brain communications*. [Case Report / Case Series]
Chen YL (2025). [PMID: 40025060](https://pubmed.ncbi.nlm.nih.gov/40025060/). *Cell death discovery*. [Case Report / Case Series]
Zhang X (2024). [PMID: 39850733](https://pubmed.ncbi.nlm.nih.gov/39850733/). *Frontiers in neurology*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 7:49 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618246

GARD

Genetic and Rare Diseases Info Center

GARD:16329

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 25

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

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