Application | Comment | Organism |
---|---|---|
medicine | pantothenate-kinase-associated neurodegeneration (PKAN) is caused by mutations of the pantothenate kinase (PANK2) on chromosome 20p13. PKAN is characterized clinically by extrapyramidal symptoms (in 98% of cases), in particular, generalized dystonia with oromandibular involvement, and parkinsonism-spasticity (25%), behavioral changes followed by dementia (29%), and pigmentary retinal degeneration. The mean age at onset is between 3 and 4 years | Homo sapiens |
medicine | pantothenate-kinase-associated neurodegeneration is caused by mutations of the pantothenate kinase gene. Pantothenate-kinase-associated neurodegeneration is characterized clinically by extrapyramidal symptoms (in 98% of cases), in particular, generalized dystonia with oromandibular involvement, and parkinsonism-spasticity (25%), behavioral changes followed by dementia (29%), and pigmentary retinal degeneration. The mean age at onset is between 3 and 4 years | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
Homo sapiens | Q9BZ23 | - |
- |
Synonyms | Comment | Organism |
---|---|---|
PanK2 | - |
Homo sapiens |
pantothenate kinase 2 | - |
Homo sapiens |