ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
Findings
No curated finding names ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with oculomotor apraxia, severe neuropathy, and hypoalbuminemia.
Definition from the Mondo Disease Ontology (MONDO:0008842), read 2026-09-29. CC BY 4.0.
- Onset and course
- Juvenile onset · Childhood onset
HPO, annotations 2026-09-02
Features
20 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
- 14 of 14 reported patients
- Very frequent (80% to 99% of cases)
- Distal amyotrophyHPOHP:0003693
- 14 of 14 reported patients
- Impaired distal vibration sensationHPOHP:0006886
- 11 of 11 reported patients
- AreflexiaHPOHP:0001284
- 12 of 13 reported patients
- Distal sensory impairmentHPOHP:0002936
- 12 of 13 reported patients
- Oculomotor apraxiaHPOHP:0000657
- 12 of 14 reported patients
- Abnormality of the nervous system
Show the remaining 8
- HypercholesterolemiaHPOHP:0003124
- 9 of 12 reported patients
- Elevated circulating creatine kinase activityHPOHP:0003236
- 8 of 11 reported patients
- Impaired executive functioningHPOHP:0033051
- 8 of 11 reported patients
- Pes cavusHPOHP:0001761
- 6 of 11 reported patients
- ScoliosisHPOHP:0002650
- 6 of 12 reported patients
- Cognitive impairmentHPOHP:0100543
- Gaze-evoked nystagmus
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.
- APTXHGNC:15984
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
3 names
Resolves to: ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
- Also called
- AOA1APTX oculomotor apraxia or related oculomotor diseaseoculomotor apraxia or related oculomotor disease caused by mutation in APTX