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mitochondrial complex I deficiency, nuclear type 11 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

mitochondrial complex I deficiency, nuclear type 11

MONDO:0032617

Also known as:MC1DN11

Overview

GeneticsAutosomal recessive · NDUFAF1 (chr 15)

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 always present findings: Moderate intellectual disability, Global developmental delay, Low muscle tone (hypotonia), and Pigmentary retinopathy and others. 20 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	5	Encephalopathy, Moderate intellectual disability, Global developmental delay

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.

NDUFAF1 encodes NADH:ubiquinone oxidoreductase complex assembly factor 1 (327 aa). As part of the MCIA complex, involved in the assembly of the mitochondrial complex I Highest expression in Testis (40.5 TPM) and Adrenal Gland (37.7 TPM).

Mitochondrial complex I deficiency, nuclear type 11 is associated with mutations in the NDUFAF1 gene on chromosome 15.

NDUFAF1 is classified as a druggable target with score 0.3.

Diagnosis

Genetic testing for NDUFAF1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 11 always present 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 11.

3 publications have been identified in PubMed for mitochondrial complex I deficiency, nuclear type 11. Research spans Other (33%), Review / Meta-Analysis (33%), and Case Report / Case Series (33%).

Recent Publications

Kaiyrzhanov R (2025). [PMID: 39963288](https://pubmed.ncbi.nlm.nih.gov/39963288/). *Brain Commun*. [Other]
Kalantari S (2025). [PMID: 39821332](https://pubmed.ncbi.nlm.nih.gov/39821332/). *Am J Med Genet A*. [Case Report / Case Series]
Zhang X (2024). [PMID: 39850733](https://pubmed.ncbi.nlm.nih.gov/39850733/). *Front Neurol*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 4:30 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618234

GARD

Genetic and Rare Diseases Info Center

GARD:16321

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 11

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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