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mitochondrial complex I deficiency, nuclear type 17 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

mitochondrial complex I deficiency, nuclear type 17

MONDO:0032622

Also known as:MC1DN17

Overview

GeneticsAutosomal recessive · NDUFAF6 (chr 8)

ResearchLimited published research (6 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: Dystonia, Elevated brain choline level by MRS, Muscle stiffness (rigidity), and Elevated brain lactate level by MRS and others; and common findings: Ataxia. 23 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	12	Dystonia, Seizure, Elevated brain choline level by MRS

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.

NDUFAF6 encodes NADH:ubiquinone oxidoreductase complex assembly factor 6 (333 aa). Involved in the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I) at early stages. May play a role in the biogenesis of complex I subunit MT-ND1 Highest expression in Brain Cerebellar Hemisphere (7.9 TPM) and Thyroid (7.7 TPM).

Mitochondrial complex I deficiency, nuclear type 17 is associated with mutations in the NDUFAF6 gene on chromosome 8.

NDUFAF6 is classified as a druggable target (Druggable Genome category) with score 0.0.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

Genetic testing for NDUFAF6 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for mitochondrial complex I deficiency, nuclear type 17 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 17 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 17.

6 publications have been identified in PubMed for mitochondrial complex I deficiency, nuclear type 17. Research spans Case Report / Case Series (33%), Basic Science / Preclinical (33%), and Diagnostic / Biomarker (17%).

Recent Publications

Jiang F (2026). [PMID: 41399147](https://pubmed.ncbi.nlm.nih.gov/41399147/). *Journal of clinical laboratory analysis*. [Basic Science / Preclinical]
Yang Q (2026). [PMID: 41982415](https://pubmed.ncbi.nlm.nih.gov/41982415/). *Front Neurol*. [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]
Hock DH (2025). [PMID: 40400026](https://pubmed.ncbi.nlm.nih.gov/40400026/). *Genome medicine*. [Diagnostic / Biomarker]
Zhou Y (2024). [PMID: 39720739](https://pubmed.ncbi.nlm.nih.gov/39720739/). *Molecular genetics and metabolism reports*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 7:49 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618239

GARD

Genetic and Rare Diseases Info Center

GARD:18372

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 17

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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