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spinocerebellar ataxia 45 (SCA45) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spinocerebellar ataxia 45

MONDO:0033480

Also known as:SCA45

Overview

GeneticsAutosomal dominant · FAT2 (chr 5)

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.

Organ System	Phenotype Count	Example Features
Brain and nerves	3	Dysarthria, Gait ataxia, Limb ataxia

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.

FAT2 encodes FAT atypical cadherin 2 (4,349 aa). Involved in the regulation of cell migration. May be involved in mediating the organization of the parallel fibers of granule cells during cerebellar development Highest expression in Brain Cerebellum (223.9 TPM) and Brain Cerebellar Hemisphere (179.8 TPM).

Spinocerebellar ataxia 45 is associated with mutations in the FAT2 gene on chromosome 5.

FAT2 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for FAT2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for spinocerebellar ataxia 45 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 5 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 spinocerebellar ataxia 45.

51 publications have been identified in PubMed for spinocerebellar ataxia 45. Research spans Basic Science / Preclinical (31%), Case Report / Case Series (16%), and Epidemiology / Natural History (16%).

Research Type	Count	% of Total
Laboratory research	16	31%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 3:06 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617769

Orphanet

European rare disease database

Orphanet:589527

GARD

Genetic and Rare Diseases Info Center

GARD:22353

Questions for Your Care Team

→Should I pursue genetic testing for FAT2, and what would the results mean for my family?
→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 45

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

spinocerebellar ataxia 45

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