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autosomal recessive spinocerebellar ataxia 10 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal recessive spinocerebellar ataxia 10

MONDO:0013392

Also known as:ANO10 autosomal recessive cerebellar ataxiaSCAR10autosomal recessive cerebellar ataxia caused by mutation in ANO10

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Overview

Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the ANO10 gene.

GeneticsAutosomal recessive · ANO10 (chr 3)

Clinical Trials1 registered · 1 recruiting

ResearchLimited published research (6 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: Shrinkage of the cerebellum (cerebellar atrophy), Dysarthria, Gait ataxia, and Limb ataxia and others; and common findings: Pes cavus, Downbeat nystagmus, Tortuosity of conjunctival vessels, and Hypermetric saccades. 19 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	9	Truncal ataxia, Babinski sign, Dysarthria

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.

ANO10 encodes anoctamin 10 (660 aa). Does not exhibit calcium-activated chloride channel (CaCC) activity. Can inhibit the activity of ANO1 Highest expression in Cells Cultured fibroblasts (26.6 TPM) and Artery Tibial (25.0 TPM).

Autosomal recessive spinocerebellar ataxia 10 is caused by mutations in the ANO10 gene on chromosome 3.

ANO10 is classified as a druggable target (Transporter category) with score 0.0.

Diagnosis

Genetic testing for ANO10 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 8 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.

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

6 publications have been identified in PubMed for autosomal recessive spinocerebellar ataxia 10. Research spans Review / Meta-Analysis (67%), Case Report / Case Series (17%), and Basic Science / Preclinical (17%).

Recent Publications

Chrysanthou A (2026). [PMID: 42129323](https://pubmed.ncbi.nlm.nih.gov/42129323/). *Sci Rep*. [Basic Science / Preclinical]
Silva TYT (2025). [PMID: 40128498](https://pubmed.ncbi.nlm.nih.gov/40128498/). *Cerebellum*. [Case Report / Case Series]
Damásio J (2025). [PMID: 41357347](https://pubmed.ncbi.nlm.nih.gov/41357347/). *Neurol Genet*. [Review / Meta-Analysis]
Fogel BL (2025). [PMID: 40464291](https://pubmed.ncbi.nlm.nih.gov/40464291/). *Ann Neurol*. [Review / Meta-Analysis]
Rudaks LI (2024). [PMID: 38760634](https://pubmed.ncbi.nlm.nih.gov/38760634/). *Cerebellum*. [Review / Meta-Analysis]

Data assembled from 8 of 12 sources · Last updated Sep 21, 2026, 12:26 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613728

Orphanet

European rare disease database

Orphanet:284289

GARD

Genetic and Rare Diseases Info Center

GARD:17314

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are any of the 1 active clinical trial a good fit for my situation?
→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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autosomal recessive spinocerebellar ataxia 10

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

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