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spinocerebellar ataxia, autosomal recessive 25 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spinocerebellar ataxia, autosomal recessive 25

MONDO:0033115

Also known as:SCAR25autosomal recessive spinocerebellar ataxia 25

Overview

GeneticsAutosomal recessive · ATG5 (chr 6)

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: Truncal ataxia, Cerebellar hypoplasia, Delayed ability to walk, and Dysmetria and others.

Organ System	Phenotype Count	Example Features
Brain and nerves	5	Truncal ataxia, Babinski sign, Dysarthria
Eyes

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.

ATG5 encodes autophagy related 5 (275 aa). Involved in autophagic vesicle formation. Highest expression in Cervix Ectocervix (19.5 TPM) and Uterus (19.3 TPM).

Spinocerebellar ataxia, autosomal recessive 25 has limited evidence linking it to mutations in the ATG5 gene on chromosome 6.

The ATG5 protein participates in ATG10 transfers ATG12 from ATG10 to ATG5, ATG10 dissociates from ATG12:ATG5, and Inhibition of DDX58/IFIH1 signaling by ATG5:ATG12:MAVS pathways.

ATG5 is classified as a druggable target (Clinically Actionable, Enzyme, and Transporter categories) with score 3.2.

Diagnosis

Genetic testing for ATG5 is available. Testing is considered research-grade for diagnosis.

Prognosis

Phenotype severity distribution: 10 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 25.

16 publications have been identified in PubMed for spinocerebellar ataxia, autosomal recessive 25. Research spans Epidemiology / Natural History (38%), Review / Meta-Analysis (25%), and Case Report / Case Series (25%).

Research Type	Count	% of Total
Disease patterns and progression	6	38%

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 12:16 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617584

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

spinocerebellar ataxia, autosomal recessive 25

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

spinocerebellar ataxia, autosomal recessive 25

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications