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mitochondrial complex I deficiency, nuclear type 33 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

mitochondrial complex I deficiency, nuclear type 33

MONDO:0032636

Also known as:MC1DN33

Overview

GeneticsAutosomal recessive · NDUFA6 (chr 22)

ResearchLimited published research (3 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 common findings: Seizure, Lactic acidosis, Status epilepticus, and Increased CSF lactate and others; and sometimes findings: Generalized hypotonia, Aspiration pneumonia, Sparse hair, and Craniofacial dystonia and others. 39 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	13	Encephalopathy, Mutism, Poor speech

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.

NDUFA6 encodes NADH:ubiquinone oxidoreductase subunit A6 (128 aa). Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed to be not involved in catalysis. Required for proper complex I assembly.

Mitochondrial complex I deficiency, nuclear type 33 is associated with mutations in the NDUFA6 gene on chromosome 22.

NDUFA6 is classified as a druggable target (Enzyme category) with score 0.3.

Diagnosis

Genetic testing for NDUFA6 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 7 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 33.

4 publications have been identified in PubMed for mitochondrial complex I deficiency, nuclear type 33. Kisho has analyzed 3 by research type. Research spans Review / Meta-Analysis (33%), Basic Science / Preclinical (33%), and Gene Therapy / Novel Therapeutics (33%).

Recent Publications

Kumari D (2026). [PMID: 41554758](https://pubmed.ncbi.nlm.nih.gov/41554758/). *Sci Rep*. [Basic Science / Preclinical]
Ősz F (2025). [PMID: 39857410](https://pubmed.ncbi.nlm.nih.gov/39857410/). *Antioxidants (Basel)*. [Review / Meta-Analysis]
Angelin A (2025). [PMID: 41398158](https://pubmed.ncbi.nlm.nih.gov/41398158/). *Nat Commun*. [Gene Therapy / Novel Therapeutics]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 1:01 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618253

GARD

Genetic and Rare Diseases Info Center

GARD:16332

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 33

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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