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mitochondrial complex IV deficiency, nuclear type 4 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

mitochondrial complex IV deficiency, nuclear type 4

MONDO:0033636

Also known as:MC4DN4

Overview

Any mitochondrial complex IV deficiency in which the cause of the disease is a mutation in the SCO1 gene.

GeneticsAutosomal recessive · SCO1 (chr 17)

ResearchLimited published research (2 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: Axial hypotonia, Hepatic steatosis, Elevated circulating aspartate aminotransferase concentration, and Bradycardia and others.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	4	Bradycardia, Thickened left heart wall (left ventricular hypertrophy), Congestive heart failure

Genetic Landscape

SCO1 function has not been fully characterized.

Mitochondrial complex IV deficiency, nuclear type 4 is associated with mutations in the SCO1 gene on chromosome 17.

Diagnosis

Genetic testing for SCO1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 21 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 IV deficiency, nuclear type 4.

2 publications have been identified in PubMed for mitochondrial complex IV deficiency, nuclear type 4. Research spans Other (50%) and Review / Meta-Analysis (50%).

Recent Publications

Kaiyrzhanov R (2025). [PMID: 39963288](https://pubmed.ncbi.nlm.nih.gov/39963288/). *Brain Commun*. [Other]
Barbato A (2024). [PMID: 39214134](https://pubmed.ncbi.nlm.nih.gov/39214134/). *Endocr Connect*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:54 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619048

GARD

Genetic and Rare Diseases Info Center

GARD:16405

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 IV deficiency, nuclear type 4

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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