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multiple mitochondrial dysfunctions syndrome 3 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

multiple mitochondrial dysfunctions syndrome 3

MONDO:0014132

Also known as:IBA57 deficiencyIBA57 fatal multiple mitochondrial dysfunctions syndromefatal multiple mitochondrial dysfunctions syndrome caused by mutation in IBA57

Overview

Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the IBA57 gene.

GeneticsAutosomal recessive · IBA57 (chr 1)

ResearchLimited published research (7 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: Elevated brain choline level by MRS, Low muscle tone (hypotonia), Elevated lactate:pyruvate ratio, and Beta-aminoisobutyric aciduria and others; and common findings: High palate, Wide intermamillary distance, Retrognathia, and Generalized muscle weakness. 39 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	9	Encephalopathy, Seizure, Elevated brain choline level by MRS

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.

IBA57 encodes iron-sulfur cluster assembly factor IBA57 (356 aa). Mitochondrial protein involved in the maturation of mitochondrial [4Fe-4S]-proteins in the late stage of the iron-sulfur cluster assembly pathway. Highest expression in Testis (9.4 TPM) and Brain Cerebellar Hemisphere (4.6 TPM).

Multiple mitochondrial dysfunctions syndrome 3 is associated with mutations in the IBA57 gene on chromosome 1.

The IBA57 protein participates in Formation of 4Fe-4S cluster on ISCA1:ISCA2 and Mitochondrial iron-sulfur cluster biogenesis pathways.

IBA57 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for IBA57 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 19 always present features, 4 common 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 3.

7 publications have been identified in PubMed for multiple mitochondrial dysfunctions syndrome 3. Research spans Case Report / Case Series (43%), Basic Science / Preclinical (43%), and Epidemiology / Natural History (14%).

Recent Publications

Xu J (2026). [PMID: 41559004](https://pubmed.ncbi.nlm.nih.gov/41559004/). *Molecular genetics & genomic medicine*. [Case Report / Case Series]
Yang L (2025). [PMID: 40850197](https://pubmed.ncbi.nlm.nih.gov/40850197/). *International immunopharmacology*. [Basic Science / Preclinical]
Jiang H (2025). [PMID: 39227420](https://pubmed.ncbi.nlm.nih.gov/39227420/). *Journal of human genetics*. [Epidemiology / Natural History]
Wu Q (2025). [PMID: 39779339](https://pubmed.ncbi.nlm.nih.gov/39779339/). *Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics*. [Case Report / Case Series]
Al-Hassnan Z (2024). [PMID: 39544370](https://pubmed.ncbi.nlm.nih.gov/39544370/). *Frontiers in psychiatry*. [Basic Science / Preclinical]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 3:46 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615330

Orphanet

European rare disease database

Orphanet:363424

GARD

Genetic and Rare Diseases Info Center

GARD:17555

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 3

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

Questions for Your Care Team

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