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mitochondrial complex III deficiency nuclear type 8 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

mitochondrial complex III deficiency nuclear type 8

MONDO:0014364

Also known as:LYRM7 mitochondrial complex III deficiencymitochondrial complex III deficiency caused by mutation in LYRM7MC3DN8

Overview

Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the LYRM7 gene.

GeneticsAutosomal recessive · LYRM7 (chr 5)

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: Global brain atrophy, Generalized hypotonia, Thin corpus callosum, and Low red blood cell count (anemia) and others; and common findings: Elevated brain lactate level by MRS, Nystagmus, Muscle weakness, and Exotropia and others. 41 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	15	Encephalopathy, Elevated brain lactate level by MRS, Global brain atrophy

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.

LYRM7 encodes LYR motif containing 7 (104 aa). Assembly factor required for Rieske Fe-S protein UQCRFS1 incorporation into the cytochrome b-c1 (CIII) complex. Highest expression in Cells EBV-transformed lymphocytes (17.7 TPM) and Brain Frontal Cortex BA9 (13.8 TPM).

Mitochondrial complex III deficiency nuclear type 8 is associated with mutations in the LYRM7 gene on chromosome 5.

The LYRM7 protein participates in 2Fe-2S is inserted in UQCRFS1 pathway.

LYRM7 is classified as a druggable target (Enzyme category) with score 0.0.

Diagnosis

Genetic testing for LYRM7 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 19 always present features, 11 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 8.

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

Recent Publications

Khan GS (2026). [PMID: 42060169](https://pubmed.ncbi.nlm.nih.gov/42060169/). *J Mol Neurosci*. [Review / Meta-Analysis]
Dewan L (2025). [PMID: 41045959](https://pubmed.ncbi.nlm.nih.gov/41045959/). *Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus*. [Case Report / Case Series]
Luke ND (2025). [PMID: 40317892](https://pubmed.ncbi.nlm.nih.gov/40317892/). *American journal of medical genetics. Part A*. [Case Report / Case Series]
Choi RH (2025). [PMID: 40254778](https://pubmed.ncbi.nlm.nih.gov/40254778/). *Obesity (Silver Spring, Md.)*. [Basic Science / Preclinical]
Dong H (2025). [PMID: 39878121](https://pubmed.ncbi.nlm.nih.gov/39878121/). *Autophagy*. [Basic Science / Preclinical]

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

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615838

GARD

Genetic and Rare Diseases Info Center

GARD:16018

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 8

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

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