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mitochondrial complex I deficiency, nuclear type 15 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

mitochondrial complex I deficiency, nuclear type 15

MONDO:0032620

Also known as:MC1DN15

Overview

GeneticsAutosomal recessive · NDUFAF4 (chr 6)

OnsetCHILDHOOD, CONGENITAL

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: Encephalopathy, Dystonia, Shrinkage of the cerebellum (cerebellar atrophy), and Generalized hypotonia and others; and common findings: Bilateral tonic-clonic seizure. 22 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	6	Encephalopathy, Bilateral tonic-clonic seizure, Dystonia

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.

NDUFAF4 encodes NADH:ubiquinone oxidoreductase complex assembly factor 4 (175 aa). Involved in the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I). May be involved in cell proliferation and survival of hormone-dependent tumor cells. Highest expression in Brain Frontal Cortex BA9 (31.3 TPM) and Brain Cerebellar Hemisphere (30.7 TPM).

Mitochondrial complex I deficiency, nuclear type 15 is associated with mutations in the NDUFAF4 gene on chromosome 6.

NDUFAF4 is classified as a druggable target with score 0.3.

Diagnosis

Genetic testing for NDUFAF4 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 10 always present features, 1 common feature.

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 15.

2 publications have been identified in PubMed for mitochondrial complex I deficiency, nuclear type 15. Research spans Review / Meta-Analysis (50%) and Case Report / Case Series (50%).

Recent Publications

Alhamad AR (2025). [PMID: 40709164](https://pubmed.ncbi.nlm.nih.gov/40709164/). *Cureus*. [Case Report / Case Series]
Zhang X (2024). [PMID: 39850733](https://pubmed.ncbi.nlm.nih.gov/39850733/). *Front Neurol*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 4:30 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618237

GARD

Genetic and Rare Diseases Info Center

GARD:16323

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 15

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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