atypical pantothenate kinase-associated neurodegeneration
MONDO:0016305Mondo
Findings
No curated finding names atypical pantothenate kinase-associated neurodegeneration yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
30 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.
- DepressionHPOHP:0000716
- Frequent (30% to 79% of cases)
- DysarthriaHPOHP:0001260
- Frequent (30% to 79% of cases)
- Emotional labilityHPOHP:0000712
- Frequent (30% to 79% of cases)
- Focal dystoniaHPOHP:0004373
- Frequent (30% to 79% of cases)
- HyperreflexiaHPOHP:0001347
- Frequent (30% to 79% of cases)
- ImpulsivityHPOHP:0100710
- Frequent (30% to 79% of cases)
- IrritabilityHPOHP:0000737
- Frequent (30% to 79% of cases)
- Limb dystoniaHPOHP:0002451
- Frequent (30% to 79% of cases)
- ParkinsonismHPOHP:0001300
- Frequent (30% to 79% of cases)
- RigidityHPOHP:0002063
- Frequent (30% to 79% of cases)
- SpasticityHPOHP:0001257
- Frequent (30% to 79% of cases)
- Upper motor neuron dysfunctionHPOHP:0002493
- Frequent (30% to 79% of cases)
Show the remaining 18
- Violent behaviorHPOHP:0008760
- Frequent (30% to 79% of cases)
- Abnormal pyramidal signHPOHP:0007256
- Occasional (5% to 29% of cases)
- Abnormal speech patternHPOHP:0002167
- Occasional (5% to 29% of cases)
- ChoreaHPOHP:0002072
- Occasional (5% to 29% of cases)
- Cognitive impairmentHPOHP:0100543
- Occasional (5% to 29% of cases)
- Compulsive behaviorsHPOHP:0000722
- Occasional (5% to 29% of cases)
Where it sits
Other names
3 names
Resolves to: atypical pantothenate kinase-associated neurodegeneration
- Also called
- NBIA1, atypical formneurodegeneration with brain iron accumulation type 1, atypical formPKAN, atypical form