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mitochondrial complex I deficiency, nuclear type 30 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

mitochondrial complex I deficiency, nuclear type 30

MONDO:0026721

Also known as:MC1DN30

Overview

GeneticsX-linked · NDUFB11 (chr X)

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: Redundant skin, Congestive heart failure, Decreased activity of mitochondrial complex I, and Intrauterine growth retardation and others.

Organ System	Phenotype Count	Example Features
Skin	1	Redundant skin

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.

NDUFB11 encodes NADH:ubiquinone oxidoreductase subunit B11 (153 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 Muscle Skeletal (325.4 TPM) and Thyroid (275.3 TPM).

Mitochondrial complex I deficiency, nuclear type 30 is associated with mutations in the NDUFB11 gene on chromosome X.

NDUFB11 is classified as a druggable target (Enzyme category) with score 0.3.

Diagnosis

Genetic testing for NDUFB11 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 6 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 30.

1 publication has been identified in PubMed for mitochondrial complex I deficiency, nuclear type 30. Research spans Review / Meta-Analysis (100%).

Recent Publications

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 18, 2026, 4:03 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:301021

GARD

Genetic and Rare Diseases Info Center

GARD:15284

Questions for Your Care Team

→Should female family members consider carrier screening for NDUFB11?
→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 30

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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