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mitochondrial complex I deficiency, nuclear type 19 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

mitochondrial complex I deficiency, nuclear type 19

MONDO:0032624

Also known as:MC1DN19

Overview

GeneticsAutosomal recessive · FOXRED1 (chr 11)

OnsetNEONATAL, CONGENITAL, JUVENILE

ResearchLimited published research (3 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: Inability to walk, Shrinkage of the cerebellum (cerebellar atrophy), Low muscle tone (hypotonia), and Irritability and others; and rarely findings: Damage to the optic nerve (optic atrophy). 25 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	11	Poor speech, Inability to walk, Seizure

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.

FOXRED1 encodes FAD dependent oxidoreductase domain containing 1 (486 aa). Required for the assembly of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I). Involved in mid-late stages of complex I assembly Highest expression in Brain Cerebellar Hemisphere (53.0 TPM) and Brain Cerebellum (47.0 TPM).

Mitochondrial complex I deficiency, nuclear type 19 is associated with mutations in the FOXRED1 gene on chromosome 11.

FOXRED1 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for FOXRED1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 13 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 I deficiency, nuclear type 19.

3 publications have been identified in PubMed for mitochondrial complex I deficiency, nuclear type 19. Research spans Review / Meta-Analysis (33%), Case Report / Case Series (33%), and Basic Science / Preclinical (33%).

Recent Publications

Kumari D (2026). [PMID: 41554758](https://pubmed.ncbi.nlm.nih.gov/41554758/). *Sci Rep*. [Basic Science / Preclinical]
Alhamad AR (2025). [PMID: 40709164](https://pubmed.ncbi.nlm.nih.gov/40709164/). *Cureus*. [Case Report / Case Series]
Zhang X (2024). [PMID: 39850733](https://pubmed.ncbi.nlm.nih.gov/39850733/). *Front Neurol*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 7:49 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618241

GARD

Genetic and Rare Diseases Info Center

GARD:16326

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 19

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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