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spinocerebellar ataxia, autosomal recessive 31 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spinocerebellar ataxia, autosomal recessive 31

MONDO:0030323

Also known as:SCAR31

Overview

GeneticsAutosomal recessive · ATG7 (chr 3)

ResearchLimited published research (9 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: Ataxia and Delayed ability to walk; and common findings: Encephalopathy, Strabismus, Muscle weakness, and Axial hypotonia and others. 39 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	13	Encephalopathy, Dystonia, Seizure

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.

ATG7 encodes autophagy related 7 (703 aa). E1-like activating enzyme involved in the 2 ubiquitin-like systems required for cytoplasm to vacuole transport (Cvt) and autophagy. Highest expression in Cells Cultured fibroblasts (17.2 TPM) and Testis (13.6 TPM).

Spinocerebellar ataxia, autosomal recessive 31 is strongly associated with mutations in the ATG7 gene on chromosome 3.

ATG7 is classified as a druggable target (Enzyme category) with score 0.0.

Diagnosis

Genetic testing for ATG7 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 2 always present features, 11 common 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 31.

9 publications have been identified in PubMed for spinocerebellar ataxia, autosomal recessive 31. Research spans Case Report / Case Series (33%), Review / Meta-Analysis (22%), and Basic Science / Preclinical (22%).

Recent Publications

Fortin J (2026). [PMID: 41669957](https://pubmed.ncbi.nlm.nih.gov/41669957/). *Mov Disord*. [Epidemiology / Natural History]
Misceo D (2026). [PMID: 42074495](https://pubmed.ncbi.nlm.nih.gov/42074495/). *Genes (Basel)*. [Case Report / Case Series]
Yousefi P (2025). [PMID: 40093192](https://pubmed.ncbi.nlm.nih.gov/40093192/). *Clinical parkinsonism & related disorders*. [Review / Meta-Analysis]
Lu Y (2025). [PMID: 41260099](https://pubmed.ncbi.nlm.nih.gov/41260099/). *Redox biology*. [Basic Science / Preclinical]
Elitzur S (2024). [PMID: 38917355](https://pubmed.ncbi.nlm.nih.gov/38917355/). *Blood*. [Epidemiology / Natural History]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 8:27 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619422

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 31

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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