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spinocerebellar ataxia, autosomal recessive 30 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spinocerebellar ataxia, autosomal recessive 30

MONDO:0030318

Also known as:SCAR30

Overview

GeneticsAutosomal recessive · PITRM1 (chr 10)

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: Mild intellectual disability, Global developmental delay, and Compulsive behaviors; and common findings: Brain shrinkage (cerebral atrophy), Dysmetria, Shrinkage of the cerebellum (cerebellar atrophy), and Ataxia and others. 17 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	8	Brain shrinkage (cerebral atrophy), Mild intellectual disability, Global developmental delay

Genetic Landscape

PITRM1 function has not been fully characterized.

Spinocerebellar ataxia, autosomal recessive 30 is associated with mutations in the PITRM1 gene on chromosome 10.

Diagnosis

Genetic testing for PITRM1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for spinocerebellar ataxia, autosomal recessive 30 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 3 always present features, 6 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 30.

11 publications have been identified in PubMed for spinocerebellar ataxia, autosomal recessive 30. Research spans Clinical Trial Publication (27%), Diagnostic / Biomarker (18%), and Review / Meta-Analysis (18%).

Research Type	Count	% of Total
Clinical study results	3	27%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 6:10 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619405

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 30

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 30

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