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mitochondrial complex I deficiency, nuclear type 16 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

mitochondrial complex I deficiency, nuclear type 16

MONDO:0032621

Also known as:MC1DN16

Overview

GeneticsAutosomal recessive · NDUFAF5 (chr 20)

OnsetCHILDHOOD, CONGENITAL

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: Spastic tetraplegia, Moderate intellectual disability, Sideways curvature of the spine (scoliosis), and Choreoathetosis and others; and rarely findings: Seizure and Damage to the optic nerve (optic atrophy). 23 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	7	Spastic tetraplegia, Moderate intellectual disability, Dystonia

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.

NDUFAF5 encodes NADH:ubiquinone oxidoreductase complex assembly factor 5 (345 aa). Arginine hydroxylase that mediates hydroxylation of 'Arg-111' of NDUFS7 and is involved in the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I, MT-ND1) at early stages. Highest expression in Brain Cerebellar Hemisphere (12.2 TPM) and Brain Cerebellum (10.6 TPM).

Mitochondrial complex I deficiency, nuclear type 16 is associated with mutations in the NDUFAF5 gene on chromosome 20.

NDUFAF5 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for NDUFAF5 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 15 always present features.

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 1:00 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618238

GARD

Genetic and Rare Diseases Info Center

GARD:16324

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 16

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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