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multiple mitochondrial dysfunctions syndrome 2 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

multiple mitochondrial dysfunctions syndrome 2

MONDO:0013675

Also known as:BOLA3 deficiencyBOLA3 fatal multiple mitochondrial dysfunctions syndromefatal multiple mitochondrial dysfunctions syndrome caused by mutation in BOLA3

Overview

Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the BOLA3 gene.

GeneticsAutosomal recessive · BOLA3 (chr 2)

ResearchLimited published research (5 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: Lethargy, Seizure, Enlarged liver (hepatomegaly), and Excessive sweating (hyperhidrosis) and others; and sometimes findings: Ataxia, Visual impairment, Damage to the optic nerve (optic atrophy), and Sudden, brief involuntary muscle jerks (myoclonus). 33 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	8	Seizure, Ataxia, Loss of previously acquired skills (developmental regression)

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.

BOLA3 encodes bolA family member 3 (107 aa). Acts as a mitochondrial iron-sulfur (Fe-S) cluster assembly factor that facilitates (Fe-S) cluster insertion into a subset of mitochondrial proteins. Probably acts together with NFU1 Highest expression in Cells EBV-transformed lymphocytes (36.2 TPM) and Cells Cultured fibroblasts (28.7 TPM).

Multiple mitochondrial dysfunctions syndrome 2 is associated with mutations in the BOLA3 gene on chromosome 2.

The BOLA3 protein participates in FXN:NFS1:ISD11:ISCU assembles 2Fe-2S iron-sulfur cluster and Mitochondrial iron-sulfur cluster biogenesis pathways.

BOLA3 is classified as a druggable target (Druggable Genome category) with score 0.0.

Diagnosis

Genetic testing for BOLA3 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 16 always present features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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 multiple mitochondrial dysfunctions syndrome 2.

5 publications have been identified in PubMed for multiple mitochondrial dysfunctions syndrome 2. Research spans Case Report / Case Series (40%), Basic Science / Preclinical (40%), and Epidemiology / Natural History (20%).

Recent Publications

Iijima H (2025). [PMID: 40273865](https://pubmed.ncbi.nlm.nih.gov/40273865/). *Molecular genetics and metabolism*. [Basic Science / Preclinical]
Jiang H (2025). [PMID: 39227420](https://pubmed.ncbi.nlm.nih.gov/39227420/). *Journal of human genetics*. [Epidemiology / Natural History]
Al-Hassnan Z (2024). [PMID: 39544370](https://pubmed.ncbi.nlm.nih.gov/39544370/). *Frontiers in psychiatry*. [Case Report / Case Series]
Xu H (2024). [PMID: 38923322](https://pubmed.ncbi.nlm.nih.gov/38923322/). *Molecular genetics & genomic medicine*. [Case Report / Case Series]
Bargagna B (2024). [PMID: 39408793](https://pubmed.ncbi.nlm.nih.gov/39408793/). *International journal of molecular sciences*. [Basic Science / Preclinical]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 6:53 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614299

Orphanet

European rare disease database

Orphanet:401874

GARD

Genetic and Rare Diseases Info Center

GARD:17662

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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multiple mitochondrial dysfunctions syndrome 2

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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