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mitochondrial complex 1 deficiency, nuclear type 35 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

mitochondrial complex 1 deficiency, nuclear type 35

MONDO:0033560

Also known as:MC1DN35MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35

Overview

GeneticsAutosomal recessive · NDUFB10 (chr 16)

OnsetCONGENITAL, ANTENATAL, NEONATAL

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: Elevated urinary 4-hydroxybutyric acid, Pulmonary hypoplasia, Nonimmune hydrops fetalis, and High blood pressure in lung arteries (pulmonary arterial hypertension) and others.

Organ System	Phenotype Count	Example Features
Lungs and breathing	3	Pulmonary hypoplasia, High blood pressure in lung arteries (pulmonary arterial hypertension), Neonatal respiratory distress

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.

NDUFB10 encodes NADH:ubiquinone oxidoreductase subunit B10 (172 aa). Accessory subunit that is involved in the functional assembly of the mitochondrial respiratory chain complex I.

Mitochondrial complex 1 deficiency, nuclear type 35 is associated with mutations in the NDUFB10 gene on chromosome 16.

NDUFB10 is classified as a druggable target (Enzyme category) with score 0.3.

Diagnosis

Genetic testing for NDUFB10 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 15 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 1 deficiency, nuclear type 35.

3 publications have been identified in PubMed for mitochondrial complex 1 deficiency, nuclear type 35. Research spans Basic Science / Preclinical (100%).

Recent Publications

Kverneng SU (2025). [PMID: 40289204](https://pubmed.ncbi.nlm.nih.gov/40289204/). *Commun Med (Lond)*. [Basic Science / Preclinical]
Iacobas DA (2025). [PMID: 41296444](https://pubmed.ncbi.nlm.nih.gov/41296444/). *Curr Issues Mol Biol*. [Basic Science / Preclinical]
Cossu D (2024). [PMID: 39409029](https://pubmed.ncbi.nlm.nih.gov/39409029/). *Int J Mol Sci*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 8:49 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619003

GARD

Genetic and Rare Diseases Info Center

GARD:16401

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 1 deficiency, nuclear type 35

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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