autosomal dominant sensory ataxia 1
Findings
No curated finding names autosomal dominant sensory ataxia 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any hereditary ataxia in which the cause of the disease is a mutation in the RNF170 gene.
Definition from the Mondo Disease Ontology (MONDO:0012166), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Middle age onset
HPO, annotations 2026-09-02
Features
14 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Distal sensory impairment of all modalitiesHPOHP:0003409
- 2 of 2 reported patients
- Gait ataxiaHPOHP:0002066
- 2 of 2 reported patients
- HyporeflexiaHPOHP:0001265
- 2 of 2 reported patients
- Sensory ataxiaHPOHP:0010871
- 2 of 2 reported patients
- Abnormal vestibulo-ocular reflexHPOHP:0007670
- 1 of 2 reported patients
- Decreased amplitude of sensory action potentialsHPOHP:0007078
- 1 of 2 reported patients
- DysarthriaHPO
Show the remaining 2
- Abnormal cerebellum morphologyHPOHP:0001317
- 0 of 1 reported patient
- Babinski signHPOHP:0003487
- 0 of 1 reported patient
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- RNF170HGNC:25358
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
4 names
Resolves to: autosomal dominant sensory ataxia 1
- Also called
- ADSAhereditary ataxia caused by mutation in RNF170RNF170 hereditary ataxiaSNAX1