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mitochondrial complex I deficiency, nuclear type 5 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

mitochondrial complex I deficiency, nuclear type 5

MONDO:0032610

Also known as:MC1DN5

Overview

GeneticsAutosomal recessive · NDUFS1 (chr 2)

ResearchLimited published research (5 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), Increased circulating lactate concentration, Increased CSF lactate, and Decreased activity of mitochondrial complex I; and common findings: Strabismus, Dystonia, Seizure, and Ataxia and others. 38 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	12	Poor speech, Dystonia, 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.

NDUFS1 encodes NADH:ubiquinone oxidoreductase core subunit S1 (727 aa). Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which catalyzes electron transfer from NADH through the respiratory chain, using ubiquinone as an electron acceptor. Highest expression in Muscle Skeletal (50.6 TPM) and Heart Left Ventricle (42.4 TPM).

Mitochondrial complex I deficiency, nuclear type 5 is associated with mutations in the NDUFS1 gene on chromosome 2.

The NDUFS1 protein participates in NUBPL transfers 4Fe-4S to NDUFV1, V2 pathway.

NDUFS1 is classified as a druggable target (Enzyme category) with score 0.3.

Diagnosis

Genetic testing for NDUFS1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 4 always present features, 21 common 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 5.

5 publications have been identified in PubMed for mitochondrial complex I deficiency, nuclear type 5. Research spans Basic Science / Preclinical (60%) and Case Report / Case Series (40%).

Recent Publications

Xu M (2026). [PMID: 41380592](https://pubmed.ncbi.nlm.nih.gov/41380592/). *Redox biology*. [Basic Science / Preclinical]
Kaiyrzhanov R (2025). [PMID: 39963288](https://pubmed.ncbi.nlm.nih.gov/39963288/). *Brain communications*. [Case Report / Case Series]
Kalantari S (2025). [PMID: 39821332](https://pubmed.ncbi.nlm.nih.gov/39821332/). *American journal of medical genetics. Part A*. [Case Report / Case Series]
de la Calle Arregui C (2025). [PMID: 41427350](https://pubmed.ncbi.nlm.nih.gov/41427350/). *bioRxiv : the preprint server for biology*. [Basic Science / Preclinical]
Chen R (2025). [PMID: 40752580](https://pubmed.ncbi.nlm.nih.gov/40752580/). *The Journal of biological chemistry*. [Basic Science / Preclinical]

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:618226

GARD

Genetic and Rare Diseases Info Center

GARD:16315

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 5

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

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