classic pantothenate kinase-associated neurodegeneration
MONDO:0016304Mondo
Findings
No curated finding names classic pantothenate kinase-associated neurodegeneration yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
28 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.
- Gait disturbanceHPOHP:0001288
- Very frequent (80% to 99% of cases)
- Abnormal posturingHPOHP:0002533
- Frequent (30% to 79% of cases)
- Abnormality of the tongueHPOHP:0000157
- Frequent (30% to 79% of cases)
- Attention deficit hyperactivity disorderHPOHP:0007018
- Frequent (30% to 79% of cases)
- Cognitive impairmentHPOHP:0100543
- Frequent (30% to 79% of cases)
- DysarthriaHPOHP:0001260
- Frequent (30% to 79% of cases)
- DysphagiaHPOHP:0002015
- Frequent (30% to 79% of cases)
- Eye of the tiger anomaly of globus pallidusHPOHP:0002454
- Frequent (30% to 79% of cases)
- Frequent fallsHPOHP:0002359
- Frequent (30% to 79% of cases)
- Generalized dystoniaHPOHP:0007325
- Frequent (30% to 79% of cases)
- HyperreflexiaHPOHP:0001347
- Frequent (30% to 79% of cases)
- Inability to walkHPOHP:0002540
- Frequent (30% to 79% of cases)
Show the remaining 16
- Increased susceptibility to fracturesHPOHP:0002659
- Frequent (30% to 79% of cases)
- Iron accumulation in brainHPOHP:0012675
- Frequent (30% to 79% of cases)
- Muscle stiffnessHPOHP:0003552
- Frequent (30% to 79% of cases)
- Optic disc pallorHPOHP:0000543
- Frequent (30% to 79% of cases)
- Pigmentary retinopathyHPOHP:0000580
- Frequent (30% to 79% of cases)
- Rod-cone dystrophyHPOHP:0000510
- Frequent (30% to 79% of cases)
Where it sits
Other names
3 names
Resolves to: classic pantothenate kinase-associated neurodegeneration
- Also called
- NBIA1, classic formneurodegeneration with brain iron accumulation type 1, classic formPKAN, classic form