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mitochondrial complex III deficiency nuclear type 6 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

mitochondrial complex III deficiency nuclear type 6

MONDO:0014194

Also known as:CYC1 mitochondrial complex III deficiencymitochondrial complex III deficiency caused by mutation in CYC1MC3DN6

Overview

Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the CYC1 gene.

GeneticsAutosomal recessive · CYC1 (chr 8)

ResearchLimited published research (8 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: Episodic ketoacidosis, Ketoacidosis, Vomiting, and Decreased activity of mitochondrial complex III and others; and common findings: Encephalopathy, Progressive neurologic deterioration, Failure to thrive, and Ptosis and others.

Organ System	Phenotype Count	Example Features
Digestive system	3	Vomiting, Acute hepatic failure, Elevated circulating hepatic transaminase concentration

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.

CYC1 encodes cytochrome c1 (325 aa). Component of the ubiquinol-cytochrome c oxidoreductase, a multisubunit transmembrane complex that is part of the mitochondrial electron transport chain which drives oxidative phosphorylation. Highest expression in Muscle Skeletal (365.1 TPM) and Heart Left Ventricle (350.9 TPM).

Mitochondrial complex III deficiency nuclear type 6 is associated with mutations in the CYC1 gene on chromosome 8.

CYC1 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for CYC1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 12 always present features, 9 common 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 III deficiency nuclear type 6.

8 publications have been identified in PubMed for mitochondrial complex III deficiency nuclear type 6. Research spans Case Report / Case Series (38%), Basic Science / Preclinical (38%), and Review / Meta-Analysis (25%).

Recent Publications

Lan SC (2026). [PMID: 42091683](https://pubmed.ncbi.nlm.nih.gov/42091683/). *Neurol Sci*. [Case Report / Case Series]
Dou K (2026). [PMID: 41805567](https://pubmed.ncbi.nlm.nih.gov/41805567/). *Proc Natl Acad Sci U S A*. [Basic Science / Preclinical]
Dong H (2025). [PMID: 39878121](https://pubmed.ncbi.nlm.nih.gov/39878121/). *Autophagy*. [Basic Science / Preclinical]
İpek R (2025). [PMID: 40014158](https://pubmed.ncbi.nlm.nih.gov/40014158/). *Neurogenetics*. [Case Report / Case Series]
Shi Y (2024). [PMID: 39554572](https://pubmed.ncbi.nlm.nih.gov/39554572/). *J Gastrointest Oncol*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 3:02 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615453

GARD

Genetic and Rare Diseases Info Center

GARD:15970

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 III deficiency nuclear type 6

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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