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mitochondrial complex I deficiency, nuclear type 12 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

mitochondrial complex I deficiency, nuclear type 12

MONDO:0026720

Also known as:mitochondrial complex i deficiency, nuclear type 12, X-linked recessiveMC1DN12

Overview

GeneticsX-linked · NDUFA1 (chr X)

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: Ataxia, Global developmental delay, and Decreased activity of mitochondrial complex I; and common findings: Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Shrinkage of the cerebellum (cerebellar atrophy), and Seizure and others.

Organ System	Phenotype Count	Example Features
Brain and nerves	13	Bilateral tonic-clonic seizure, Generalized myoclonic seizure, 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.

NDUFA1 encodes NADH:ubiquinone oxidoreductase subunit A1 (70 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 (754.6 TPM) and Heart Atrial Appendage (614.2 TPM).

Mitochondrial complex I deficiency, nuclear type 12 is associated with mutations in the NDUFA1 gene on chromosome X.

NDUFA1 is classified as a druggable target (Enzyme category) with score 0.3.

Diagnosis

Genetic testing for NDUFA1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 3 always present features, 23 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 12.

5 publications have been identified in PubMed for mitochondrial complex I deficiency, nuclear type 12. Research spans Basic Science / Preclinical (60%), Other (20%), and Review / Meta-Analysis (20%).

Recent Publications

Kaiyrzhanov R (2025). [PMID: 39963288](https://pubmed.ncbi.nlm.nih.gov/39963288/). *Brain Commun*. [Other]
Chai G (2025). [PMID: 40624018](https://pubmed.ncbi.nlm.nih.gov/40624018/). *Cell Death Dis*. [Basic Science / Preclinical]
Mao G (2025). [PMID: 40885831](https://pubmed.ncbi.nlm.nih.gov/40885831/). *Sci Rep*. [Basic Science / Preclinical]
Gupta P (2025). [PMID: 40016208](https://pubmed.ncbi.nlm.nih.gov/40016208/). *Nat Commun*. [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 19, 2026, 6:54 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:301020

GARD

Genetic and Rare Diseases Info Center

GARD:15283

Questions for Your Care Team

→Should female family members consider carrier screening for NDUFA1?
→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 12

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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