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mitochondrial complex I deficiency, nuclear type 26 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

mitochondrial complex I deficiency, nuclear type 26

MONDO:0032630

Also known as:MC1DN26

Overview

GeneticsAutosomal recessive · NDUFA9 (chr 12)

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: Brain shrinkage (cerebral atrophy), Hearing loss (hearing impairment), Choreoathetosis, and Dystonia and others. 19 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	6	Hyporeflexia, Brain shrinkage (cerebral atrophy), Difficulty swallowing (dysphagia)

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.

NDUFA9 encodes NADH:ubiquinone oxidoreductase subunit A9 (377 aa). Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Required for proper complex I assembly. Highest expression in Cells EBV-transformed lymphocytes (25.2 TPM) and Heart Left Ventricle (24.6 TPM).

Mitochondrial complex I deficiency, nuclear type 26 is associated with mutations in the NDUFA9 gene on chromosome 12.

NDUFA9 is classified as a druggable target (Enzyme category) with score 0.3.

Diagnosis

Genetic testing for NDUFA9 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 13 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 26.

2 publications have been identified in PubMed for mitochondrial complex I deficiency, nuclear type 26. Research spans Review / Meta-Analysis (50%) and Basic Science / Preclinical (50%).

Recent Publications

Chai S (2026). [PMID: 40313092](https://pubmed.ncbi.nlm.nih.gov/40313092/). *Neural Regen Res*. [Basic Science / Preclinical]
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 20, 2026, 8:40 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618247

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 26

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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Questions for Your Care Team

Questions for Your Care Team

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