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mitochondrial complex I deficiency, nuclear type 37 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

mitochondrial complex I deficiency, nuclear type 37

MONDO:0030997

Also known as:MC1DN37mitochondrial complex 1 deficiency, nuclear type 37

Overview

GeneticsAutosomal recessive · NDUFA8 (chr 9)

OnsetADULT, INFANTILE

ResearchLimited published research (4 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: Poor head control, Inguinal hernia, Shrinkage of the cerebellum (cerebellar atrophy), and Failure to thrive and others; and common findings: Hypertonia, Seizure, Cerebral cortical atrophy, and Low muscle tone (hypotonia) and others.

Organ System	Phenotype Count	Example Features
Brain and nerves	8	Seizure, Cerebral cortical atrophy, Enlarged brain ventricles (ventriculomegaly)

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.

NDUFA8 encodes NADH:ubiquinone oxidoreductase subunit A8 (172 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 (220.3 TPM) and Heart Atrial Appendage (208.0 TPM).

Mitochondrial complex I deficiency, nuclear type 37 is associated with mutations in the NDUFA8 gene on chromosome 9.

NDUFA8 is classified as a druggable target (Enzyme category) with score 0.3.

Diagnosis

Genetic testing for NDUFA8 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 20 always present features, 11 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 37.

4 publications have been identified in PubMed for mitochondrial complex I deficiency, nuclear type 37. Research spans Basic Science / Preclinical (50%), Review / Meta-Analysis (25%), and Case Report / Case Series (25%).

Recent Publications

Gupta P (2025). [PMID: 40016208](https://pubmed.ncbi.nlm.nih.gov/40016208/). *Nature communications*. [Basic Science / Preclinical]
Zhang X (2024). [PMID: 39850733](https://pubmed.ncbi.nlm.nih.gov/39850733/). *Frontiers in neurology*. [Review / Meta-Analysis]
Kyrgiafini MA (2024). [PMID: 38612930](https://pubmed.ncbi.nlm.nih.gov/38612930/). *International journal of molecular sciences*. [Basic Science / Preclinical]
Misceo D (2024). [PMID: 38674434](https://pubmed.ncbi.nlm.nih.gov/38674434/). *Genes (Basel)*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 8:40 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619272

GARD

Genetic and Rare Diseases Info Center

GARD:16440

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 37

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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