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spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 (SCAN3) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3

MONDO:0020770

Also known as:SCAN3

Overview

GeneticsAutosomal recessive · COA7 (chr 1)

OnsetJUVENILE

ResearchLimited published research (1 article)

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: Hyporeflexia, Dysmetria, Distal amyotrophy, and Dysarthria and others; and rarely findings: Leukoencephalopathy. 20 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	10	Hyporeflexia, Peripheral axonal neuropathy, Steppage gait

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.

COA7 encodes cytochrome c oxidase assembly factor 7 (231 aa). Required for assembly of mitochondrial respiratory chain complex I and complex IV Highest expression in Cells Cultured fibroblasts (21.7 TPM) and Cells EBV-transformed lymphocytes (15.3 TPM).

Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 is associated with mutations in the COA7 gene on chromosome 1.

COA7 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for COA7 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 9 always present 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 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3.

1 publication has been identified in PubMed for spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3. Research spans Epidemiology / Natural History (100%).

Recent Publications

Ahmed AN (2024). [PMID: 39415096](https://pubmed.ncbi.nlm.nih.gov/39415096/). *BMC Neurol*. [Epidemiology / Natural History]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 4:39 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618387

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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spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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Questions for Your Care Team

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