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

Rare Disease

mitochondrial complex IV deficiency, nuclear type 1

MONDO:0700250

Overview

Any mitochondrial complex IV deficiency in which the cause of the disease is a mutation in the SURF1 gene.

GeneticsMitochondrial (maternal), Autosomal recessive · SURF1 (chr 9)

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: Low muscle tone (hypotonia), Ataxia, Generalized hypotonia, and Failure to thrive and others. 40 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	8	Seizure, Ataxia, Intellectual disability

Genetic Landscape

SURF1 function has not been fully characterized.

Mitochondrial complex IV deficiency, nuclear type 1 is associated with mutations in the SURF1 gene on chromosome 9.

Diagnosis

Genetic testing for SURF1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 12 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 1.

8 publications have been identified in PubMed for mitochondrial complex IV deficiency, nuclear type 1. Research spans Other (25%), Review / Meta-Analysis (25%), and Case Report / Case Series (25%).

Recent Publications

Smith TB (2025). [PMID: 39701103](https://pubmed.ncbi.nlm.nih.gov/39701103/). *Am J Hum Genet*. [Basic Science / Preclinical]
Zilber S (2025). [PMID: 41267082](https://pubmed.ncbi.nlm.nih.gov/41267082/). *Res Involv Engagem*. [Other]
Kaiyrzhanov R (2025). [PMID: 39963288](https://pubmed.ncbi.nlm.nih.gov/39963288/). *Brain Commun*. [Other]
Zhang X (2024). [PMID: 39850733](https://pubmed.ncbi.nlm.nih.gov/39850733/). *Front Neurol*. [Review / Meta-Analysis]
Shao L (2024). [PMID: 39702527](https://pubmed.ncbi.nlm.nih.gov/39702527/). *Cell Death Dis*. [Basic Science / Preclinical]
Misceo D (2024). [PMID: 38674434](https://pubmed.ncbi.nlm.nih.gov/38674434/). *Genes (Basel)*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 9:39 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:220110

GARD

Genetic and Rare Diseases Info Center

GARD:15158

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 1

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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