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mitochondrial complex I deficiency, nuclear type 27 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

mitochondrial complex I deficiency, nuclear type 27

MONDO:0032631

Also known as:MC1DN27

Overview

GeneticsAutosomal recessive · MTFMT (chr 15)

ResearchLimited published research (4 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: Global developmental delay and Decreased activity of mitochondrial complex I; and common findings: Neurogenic bladder, Spastic tetraplegia, Low muscle tone (hypotonia), and Ataxia and others.

Organ System	Phenotype Count	Example Features
Brain and nerves	4	Spastic tetraplegia, Global developmental delay, Ataxia

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.

MTFMT encodes mitochondrial methionyl-tRNA formyltransferase (389 aa). Methionyl-tRNA formyltransferase that formylates methionyl-tRNA in mitochondria and is crucial for translation initiation Highest expression in Uterus (12.9 TPM) and Fallopian Tube (12.8 TPM).

Mitochondrial complex I deficiency, nuclear type 27 is associated with mutations in the MTFMT gene on chromosome 15.

MTFMT is classified as a druggable target (Enzyme category) with score 0.0.

Diagnosis

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

Prognosis

Phenotype severity distribution: 2 always present features, 7 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 I deficiency, nuclear type 27.

4 publications have been identified in PubMed for mitochondrial complex I deficiency, nuclear type 27. Research spans Review / Meta-Analysis (50%) and Basic Science / Preclinical (50%).

Recent Publications

Adorisio R (2025). [PMID: 40678571](https://pubmed.ncbi.nlm.nih.gov/40678571/). *Front Cardiovasc Med*. [Review / Meta-Analysis]
Hock DH (2025). [PMID: 40400026](https://pubmed.ncbi.nlm.nih.gov/40400026/). *Genome Med*. [Basic Science / Preclinical]
Antolínez-Fernández Á (2024). [PMID: 38855161](https://pubmed.ncbi.nlm.nih.gov/38855161/). *Front Cell Dev Biol*. [Review / Meta-Analysis]
Rouzier C (2024). [PMID: 38703036](https://pubmed.ncbi.nlm.nih.gov/38703036/). *Ann Clin Transl Neurol*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 6:50 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618248

GARD

Genetic and Rare Diseases Info Center

GARD:18375

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 I deficiency, nuclear type 27

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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