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mitochondrial complex I deficiency, nuclear type 10 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

mitochondrial complex I deficiency, nuclear type 10

MONDO:0032616

Also known as:MC1DN10

Overview

GeneticsAutosomal recessive · NDUFAF2 (chr 5)

ResearchLimited published research (7 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: Low muscle tone (hypotonia), Ataxia, Nystagmus, and Respiratory failure and others; and rarely findings: Seizure and External ophthalmoplegia. 22 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	8	Encephalopathy, Seizure, Ataxia

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.

NDUFAF2 encodes NADH:ubiquinone oxidoreductase complex assembly factor 2 (169 aa). Acts as a molecular chaperone for mitochondrial complex I assembly. Complex I functions in the transfer of electrons from NADH to the respiratory chain. Highest expression in Cells Cultured fibroblasts (65.3 TPM) and Artery Tibial (46.5 TPM).

Mitochondrial complex I deficiency, nuclear type 10 is associated with mutations in the NDUFAF2 gene on chromosome 5.

NDUFAF2 is classified as a druggable target (Enzyme category) with score 0.3.

Diagnosis

Genetic testing for NDUFAF2 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 15 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 10.

7 publications have been identified in PubMed for mitochondrial complex I deficiency, nuclear type 10. Research spans Case Report / Case Series (43%), Basic Science / Preclinical (29%), and Other (14%).

Recent Publications

Baoyin S (2026). [PMID: 41743410](https://pubmed.ncbi.nlm.nih.gov/41743410/). *Food Sci Nutr*. [Basic Science / Preclinical]
Alhamad AR (2025). [PMID: 40709164](https://pubmed.ncbi.nlm.nih.gov/40709164/). *Cureus*. [Case Report / Case Series]
Kaiyrzhanov R (2025). [PMID: 39963288](https://pubmed.ncbi.nlm.nih.gov/39963288/). *Brain Commun*. [Other]
Lo CH (2024). [PMID: 38949024](https://pubmed.ncbi.nlm.nih.gov/38949024/). *J Clin Invest*. [Basic Science / Preclinical]
Marshall AE (2024). [PMID: 38477541](https://pubmed.ncbi.nlm.nih.gov/38477541/). *Am J Med Genet A*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 1:38 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618233

GARD

Genetic and Rare Diseases Info Center

GARD:16320

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 10

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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