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auditory neuropathy-optic atrophy syndrome (ANOA) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

auditory neuropathy-optic atrophy syndrome

MONDO:0060582

Also known as:ANOAauditory neuropathy and optic atrophymultiple mitochondrial dysfunctions syndrome 9A

Overview

A mitochondrial dysfunction syndrome in which the cause of the disease is a mutation in the FDXR gene. It is characterized by onset of visual and hearing impairment in the first or second decades.

GeneticsAutosomal recessive · FDXR (chr 17)

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: Hearing loss (hearing impairment), Damage to the optic nerve (optic atrophy), and Visual impairment; and sometimes findings: Nystagmus and Rod-cone dystrophy.

Organ System	Phenotype Count	Example Features
Eyes	3	Nystagmus, Damage to the optic nerve (optic atrophy), Visual impairment

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).

Auditory neuropathy-optic atrophy syndrome 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.

Prognosis

Phenotype severity distribution: 3 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 auditory neuropathy-optic atrophy syndrome.

11 publications have been identified in PubMed for auditory neuropathy-optic atrophy syndrome. Research spans Case Report / Case Series (50%), Basic Science / Preclinical (20%), and Epidemiology / Natural History (20%).

Research Type	Count	% of Total
Patient case studies	5	50%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 4:32 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617717

Orphanet

European rare disease database

Orphanet:542585

GARD

Genetic and Rare Diseases Info Center

GARD:17983

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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Kisho

auditory neuropathy-optic atrophy syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

auditory neuropathy-optic atrophy syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications