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mitochondrial complex I deficiency, nuclear type 34 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

mitochondrial complex I deficiency, nuclear type 34

MONDO:0032910

Also known as:MC1DN34

Overview

GeneticsAutosomal recessive · NDUFAF8 (chr 17)

ResearchLimited published research (1 article)

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: Lactic acidosis; and common findings: Hypsarrhythmia, Infantile spasms, and Intrauterine growth retardation. 12 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	2	Abnormal diffusion weighted cerebral MRI morphology, 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.

NDUFAF8 encodes NADH:ubiquinone oxidoreductase complex assembly factor 8 (74 aa). Involved in the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I, MT-ND1). Required to stabilize NDUFAF5 Highest expression in Cells Cultured fibroblasts (57.7 TPM) and Cells EBV-transformed lymphocytes (44.9 TPM).

Mitochondrial complex I deficiency, nuclear type 34 is associated with mutations in the NDUFAF8 gene on chromosome 17.

NDUFAF8 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for NDUFAF8 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 1 always present feature, 3 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 34.

1 publication has been identified in PubMed for mitochondrial complex I deficiency, nuclear type 34. Research spans Review / Meta-Analysis (100%).

Recent Publications

Zhao T (2025). [PMID: 40164634](https://pubmed.ncbi.nlm.nih.gov/40164634/). *NPJ genomic medicine*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 10:42 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618776

GARD

Genetic and Rare Diseases Info Center

GARD:16378

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 34

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

Questions for Your Care Team

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