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autosomal dominant sensory ataxia 1 (ADSA) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal dominant sensory ataxia 1

MONDO:0012166

Also known as:ADSARNF170 hereditary ataxiaSNAX1

Overview

Any hereditary ataxia in which the cause of the disease is a mutation in the RNF170 gene.

GeneticsAutosomal dominant · RNF170 (chr 8)

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: Hyporeflexia, Gait ataxia, Sensory ataxia, and Distal sensory impairment of all modalities; and common findings: Impaired distal proprioception, Difficulty walking (gait disturbance), Dysarthria, and Dysesthesia and others. 17 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	7	Hyporeflexia, Babinski sign, Difficulty walking (gait disturbance)

Genetic Landscape

RNF170 function has not been fully characterized.

Autosomal dominant sensory ataxia 1 is associated with mutations in the RNF170 gene on chromosome 8.

Diagnosis

Genetic testing for RNF170 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 4 always present features, 9 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 autosomal dominant sensory ataxia 1.

120 publications have been identified in PubMed for autosomal dominant sensory ataxia 1. Kisho has analyzed 88 by research type. Research spans Basic Science / Preclinical (28%), Review / Meta-Analysis (25%), and Case Report / Case Series (24%).

Research Type	Count	% of Total
Laboratory research	25	28%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 9:47 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:608984

Questions for Your Care Team

→Should I pursue genetic testing for RNF170, 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

autosomal dominant sensory ataxia 1

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

autosomal dominant sensory ataxia 1

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