spastic ataxia 3
MONDO:0012664Mondo
Findings
No curated finding names spastic ataxia 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any autosomal recessive spastic ataxia in which the cause of the disease is a mutation in the MARS2 gene.
Definition from the Mondo Disease Ontology (MONDO:0012664), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Middle age onset · Juvenile onset · Young adult onset · Childhood onset
HPO, annotations 2026-09-02
Features
24 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.
- AtaxiaHPOHP:0001251
- 54 of 54 reported patients
- HyperreflexiaHPOHP:0001347
- 23 of 23 reported patients
- Very frequent (80% to 99% of cases)
- SpasticityHPOHP:0001257
- 54 of 54 reported patients
- Frequent (30% to 79% of cases)
- Cerebellar vermis atrophyHPOHP:0006855
- 50 of 54 reported patients
- Cerebellar hypoplasiaHPOHP:0001321
- Very frequent (80% to 99% of cases)
- Spastic ataxiaHPOHP:0002497
- Very frequent (80% to 99% of cases)
Show the remaining 12
- Horizontal nystagmusHPOHP:0000666
- 24 of 54 reported patients
- Frequent (30% to 79% of cases)
- LeukoencephalopathyHPOHP:0002352
- 21 of 54 reported patients
- Frequent (30% to 79% of cases)
- Mild intellectual disabilityHPOHP:0001256
- Frequent (30% to 79% of cases)
- Progressive cerebellar ataxiaHPOHP:0002073
- Frequent (30% to 79% of cases)
- ScoliosisHPOHP:0002650
- 9 of 54 reported patients
- Frequent (30% to 79% of cases)
- Spastic dysarthriaHPOHP:0002464
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.
- MARS2HGNC:25133
- Moderate · Genomics England PanelApp · Autosomal recessive · 2021
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
Where it sits
Other names
6 names
Resolves to: spastic ataxia 3
- Also called
- ARSALautosomal recessive spastic ataxia caused by mutation in MARS2autosomal recessive spastic ataxia type 3MARS2 autosomal recessive spastic ataxiaspastic ataxia type 3SPAX3