Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

mitochondrial complex I deficiency, nuclear type 39 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

mitochondrial complex I deficiency, nuclear type 39

MONDO:0859320

Overview

GeneticsAutosomal recessive · NDUFB7 (chr 19)

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: Oligohydramnios, Dysplastic corpus callosum, Enlarged heart (cardiomegaly), and Elevated brain lactate level by MRS and others.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	4	Enlarged heart (cardiomegaly), Thickened heart muscle (hypertrophic cardiomyopathy), Perimembranous ventricular septal defect

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.

NDUFB7 encodes NADH:ubiquinone oxidoreductase subunit B7 (137 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 Artery Aorta (327.1 TPM) and Muscle Skeletal (324.6 TPM).

Mitochondrial complex I deficiency, nuclear type 39 is associated with mutations in the NDUFB7 gene on chromosome 19.

NDUFB7 is classified as a druggable target (Enzyme category) with score 0.3.

Diagnosis

Genetic testing for NDUFB7 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 18, 2026, 8:30 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620135

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?

← Back to All Diseases

mitochondrial complex I deficiency, nuclear type 39

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features