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multiple mitochondrial dysfunctions syndrome 9b - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

multiple mitochondrial dysfunctions syndrome 9b

MONDO:0971174

Overview

A mitochondrial dysfunction syndrome in which the cause of the disease is a mutation in the FDXR gene. It is characterized by optic atrophy and/or auditory neuropathy variably associated with developmental delay or regression, global hypotonia, pyramidal and cerebellar signs, and seizures.

GeneticsFDXR (chr 17)

ResearchLimited published research (1 article)

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.

FDXR encodes ferredoxin reductase (491 aa). Serves as the first electron transfer protein in all the mitochondrial P450 systems including cholesterol side chain cleavage in all steroidogenic tissues, steroid 11-beta hydroxylation in the adrenal cortex, 25-OH-vitamin D3-24 hydroxylation in the kidney, and sterol C-27 hydroxylation in the liver. Highest expression in Adrenal Gland (302.8 TPM) and Testis (77.8 TPM).

Multiple mitochondrial dysfunctions syndrome 9b is associated with mutations in the FDXR gene on chromosome 17.

The FDXR protein participates in NADPH transfers electrons to FDXR, FDXR transfers electrons to FDX1,2 (FDX1L), and COQ6 hydroxylates DHB pathways.

FDXR is classified as a druggable target (Enzyme category) with score 13.1.

Diagnosis

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

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 9b.

1 publication has been identified in PubMed for multiple mitochondrial dysfunctions syndrome 9b. Research spans Basic Science / Preclinical (100%).

Recent Publications

Bargagna B (2024). [PMID: 39408793](https://pubmed.ncbi.nlm.nih.gov/39408793/). *Int J Mol Sci*. [Basic Science / Preclinical]

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 5:35 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620887

Questions for Your Care Team

→Should I pursue genetic testing for FDXR, and what would the results mean for my family?
→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 9b

Overview

Genetic Landscape

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team