parkinsonism due to ATP13A2 deficiency
MONDO:0017809Mondo
Findings
No curated finding names parkinsonism due to ATP13A2 deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
18 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.
- RigidityHPOHP:0002063
- Very frequent (80% to 99% of cases)
- Babinski signHPOHP:0003487
- Frequent (30% to 79% of cases)
- BradykinesiaHPOHP:0002067
- Frequent (30% to 79% of cases)
- Cognitive impairmentHPOHP:0100543
- Frequent (30% to 79% of cases)
- Diffuse cerebral atrophyHPOHP:0002506
- Frequent (30% to 79% of cases)
- DystoniaHPOHP:0001332
- Frequent (30% to 79% of cases)
- MyoclonusHPOHP:0001336
- Frequent (30% to 79% of cases)
- Parkinsonism with favorable response to dopaminergic medicationHPOHP:0002548
- Frequent (30% to 79% of cases)
- Postural instabilityHPOHP:0002172
- Frequent (30% to 79% of cases)
- TremorHPOHP:0001337
- Frequent (30% to 79% of cases)
- Upgaze palsyHPOHP:0025331
- Frequent (30% to 79% of cases)
- Abnormal caudate nucleus morphologyHPOHP:0002339
- Occasional (5% to 29% of cases)
Show the remaining 6
- DysarthriaHPOHP:0001260
- Occasional (5% to 29% of cases)
- FatigueHPOHP:0012378
- Occasional (5% to 29% of cases)
- Gait disturbanceHPOHP:0001288
- Occasional (5% to 29% of cases)
- Muscle weaknessHPOHP:0001324
- Occasional (5% to 29% of cases)
- DepressionHPOHP:0000716
- Very rare (1% to 4% of cases)
- Postural tremorHPOHP:0002174
- Very rare (1% to 4% of cases)
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.
- ATP13A2HGNC:30213
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
1 name
Resolves to: parkinsonism due to ATP13A2 deficiency
- Also called
- CLN12 disease